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1. Lortscher DN, Sengelmann RD, Allen SB: Acrochordon-like basal cell carcinomas in patients with basal cell nevus syndrome. Dermatol Online J; 2007;13(2):21
MedlinePlus Health Information. consumer health - Skin Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acrochordon-like basal cell carcinomas in patients with basal cell nevus syndrome.
  • Basal cell nevus syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinomas, along with numerous other documented clinical features.
  • Our findings support the biopsy of acrochordon-like growths in patients with basal cell nevus syndrome to rule out basal cell carcinoma.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Cell Transformation, Neoplastic / pathology. Skin Neoplasms / pathology

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  • (PMID = 17498440.001).
  • [ISSN] 1087-2108
  • [Journal-full-title] Dermatology online journal
  • [ISO-abbreviation] Dermatol. Online J.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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2. Karthiga KS, Sivapatha Sundharam B, Manikandan R: Nevoid basal cell carcinoma syndrome. Indian J Dent Res; 2006 Jan-Mar;17(1):50-3
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

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  • [Title] Nevoid basal cell carcinoma syndrome.
  • Binkley and Johnson first reported this syndrome in 1951.
  • But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as Nevoid Basal Cell Carcinoma Syndrome (NBCCS).
  • One such case of Gorlin-Goltz syndrome is reported here with good illustrations.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Maxillary Neoplasms / diagnosis

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  • (PMID = 16900896.001).
  • [ISSN] 0970-9290
  • [Journal-full-title] Indian journal of dental research : official publication of Indian Society for Dental Research
  • [ISO-abbreviation] Indian J Dent Res
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] India
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3. De-Domingo B, González F, Lorenzo P: [Gorlin syndrome (nevoid basal cell carcinoma syndrome)]. Arch Soc Esp Oftalmol; 2008 May;83(5):321-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Gorlin syndrome (nevoid basal cell carcinoma syndrome)].
  • [Transliterated title] Síndrome de Gorlin (síndrome nevoide basocelular).
  • CLINICAL CASE: A 77 year-old male patient with Parkinson's disease and senile dementia had many facial basal cell carcinomas and an ectropion of the left eye.
  • DISCUSSION: Gorlin syndrome is an autosomal dominant condition characterized by basal cell carcinomas, and skeletal and neurological anomalies.
  • The presence of multiple basal cell carcinomas on the eyelids in a child or in a young patient should alert ophthalmologists to the possibility of this syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Eyelid Neoplasms / pathology

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  • (PMID = 18464182.001).
  • [ISSN] 0365-6691
  • [Journal-full-title] Archivos de la Sociedad Española de Oftalmología
  • [ISO-abbreviation] Arch Soc Esp Oftalmol
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Spain
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4. McPherson T, Ogg G: Spontaneous resolution of basal cell carcinoma in naevoid basal cell carcinoma syndrome/Gorlin's syndrome. Clin Exp Dermatol; 2009 Dec;34(8):e884-5
MedlinePlus Health Information. consumer health - Skin Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Spontaneous resolution of basal cell carcinoma in naevoid basal cell carcinoma syndrome/Gorlin's syndrome.
  • We describe a 10-year-old patient with naevoid basal cell carcinoma syndrome (NBCCS) which was diagnosed when she was 3 years old.
  • She has developed multiple basal cell carcinomas (BCCs) over this time, in particular on her face and trunk.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Skin Neoplasms / pathology

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  • (PMID = 20055856.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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5. Lo Muzio L: Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis; 2008;3:32
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid basal cell carcinoma syndrome (Gorlin syndrome).
  • Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms.
  • Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies).
  • Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome).
  • [MeSH-major] Basal Cell Nevus Syndrome

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  • (PMID = 19032739.001).
  • [ISSN] 1750-1172
  • [Journal-full-title] Orphanet journal of rare diseases
  • [ISO-abbreviation] Orphanet J Rare Dis
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 164
  • [Other-IDs] NLM/ PMC2607262
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6. Belliveau MJ, Coupal DJ, Brownstein S, Jordan DR, Prokopetz R: Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. Ophthal Plast Reconstr Surg; 2010 May-Jun;26(3):147-52
MedlinePlus Health Information. consumer health - Skin Cancer.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome.
  • PURPOSE: To describe the histopathologic findings in a series of eyelid basal cell carcinomas removed from patients with basal cell nevus syndrome.
  • METHODS: Retrospective case series of 5 patients with basal cell nevus syndrome identified from our oculoplastics service.
  • The pertinent published literature on basal cell nevus syndrome and eyelid basal cell carcinoma was reviewed.
  • Twenty-three of these lesions were basal cell carcinomas.
  • The infundibulocystic variant of basal cell carcinoma was identified most commonly (57%).
  • CONCLUSIONS: Eyelid basal cell carcinomas in patients with basal cell nevus syndrome were commonly of the infundibulocystic variety in our series.
  • Infundibulocystic basal cell carcinomas, which can be clinically indistinguishable from the more common forms, are thought to be less aggressive than other types of basal cell carcinoma and are a reassuring histopathologic diagnosis.
  • It is important for the ophthalmologist and pathologist to be aware of infundibulocystic basal cell carcinomas, as they are more common in patients with basal cell nevus syndrome and may be a clue to the diagnosis of this autosomal dominant cancer-predisposition syndrome or other associated syndromes.
  • To our knowledge, this variant of basal cell carcinoma has not been previously discussed in the ophthalmic literature.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Eyelid Neoplasms / pathology. Neoplasms, Multiple Primary / pathology. Skin Neoplasms / pathology


7. R Yang X, Pfeiffer RM, Goldstein AM: Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome. J Med Genet; 2006 Apr;43(4):e16
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome.
  • BACKGROUND: The naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant multisystem disorder with variable expression.
  • NBCCS patients have variable susceptibility to development of basal cell carcinoma (BCC).

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  • (PMID = 16582078.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] ENG
  • [Grant] United States / Intramural NIH HHS / /
  • [Publication-type] Letter; Research Support, N.I.H., Intramural
  • [Publication-country] England
  • [Chemical-registry-number] EC 1.14.14.1 / Cytochrome P-450 CYP1A1; EC 1.14.14.1 / Cytochrome P-450 CYP2D6; EC 2.5.1.- / glutathione S-transferase T1; EC 2.5.1.18 / GSTP1 protein, human; EC 2.5.1.18 / Glutathione S-Transferase pi; EC 2.5.1.18 / Glutathione Transferase; EC 2.5.1.18 / glutathione S-transferase M1
  • [Other-IDs] NLM/ PMC2563218
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8. Taylor SF, Cook AE, Leatherbarrow B: Review of patients with basal cell nevus syndrome. Ophthal Plast Reconstr Surg; 2006 Jul-Aug;22(4):259-65
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Review of patients with basal cell nevus syndrome.
  • PURPOSE: To review patients with basal cell nevus syndrome (BCNS), documenting presentation, referrals, treatment patterns, and associated morbidity.
  • Presenting clinical features included odontogenic keratocyst in 17 patients and basal cell carcinoma in 13 patients; less common presentations were with congenital malformations (n = 2), with ophthalmic associations (n = 3), and at genetic counseling (n = 4).
  • Basal cell carcinoma developed in 18 of the 28 patients before the age of 30, confirming the reported early age of onset.
  • Periocular basal cell carcinoma was reported in 24 of 39 patients (61%), with recurrent disease reported in 17 of these 24 (71%), despite a variety of treatment modalities used.
  • CONCLUSIONS: Patients with BCNS frequently have ophthalmic manifestations, particularly periocular basal cell carcinoma.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology
  • [MeSH-minor] Adolescent. Adult. Aged. Carcinoma, Basal Cell / pathology. Child. Child, Preschool. Cross-Sectional Studies. Eye Diseases / diagnosis. Eyelid Neoplasms / pathology. Female. Genetic Counseling. Humans. Male. Middle Aged. Retrospective Studies

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  • (PMID = 16855496.001).
  • [ISSN] 0740-9303
  • [Journal-full-title] Ophthalmic plastic and reconstructive surgery
  • [ISO-abbreviation] Ophthal Plast Reconstr Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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9. Wang SQ, Goldberg LH: Multiple polypoid basal cell carcinomas on the perineum of a patient with basal cell nevus syndrome. J Am Acad Dermatol; 2007 Aug;57(2 Suppl):S36-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple polypoid basal cell carcinomas on the perineum of a patient with basal cell nevus syndrome.
  • We present a case report of a patient with basal cell nevus syndrome (BCNS) who developed multiple polypoid basal cell carcinomas (PBCC) in the perineum.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Genital Neoplasms, Male / pathology. Skin Neoplasms / pathology

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  • (PMID = 17637368.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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10. Takahashi C, Kanazawa N, Yoshikawa Y, Yoshikawa R, Saitoh Y, Chiyo H, Tanizawa T, Hashimoto-Tamaoki T, Nakano Y: Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. J Hum Genet; 2009 Jul;54(7):403-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.
  • Basal cell nevus syndrome (BCNS or Gorlin syndrome, OMIM: 109400) is a rare autosomal dominant disorder with high penetrance.
  • It is characterized by developmental anomalies and predisposition to tumors (for example, basal cell carcinoma (BCC) and medulloblastoma).
  • The PTCH1 protein is a Hedgehog (Hh) protein receptor and is pivotal for early development, stem cell maintenance and/or differentiation.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation / genetics. Receptors, Cell Surface / genetics


11. Grgic A, Aliani S, Dill-Mueller D, Heinrich M, Heckmann M, Kramann B, Uder M: [Nevoid basal cell carcinoma syndrome]. Rontgenpraxis; 2005;56(1):29-36
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Nevoid basal cell carcinoma syndrome].
  • Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal-dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar/plantar pits, calcification of the falx cerebri, and spine and rib anomalies.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Basal Cell Nevus Syndrome / radiography

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  • (PMID = 16218525.001).
  • [ISSN] 0035-7820
  • [Journal-full-title] Röntgenpraxis; Zeitschrift für radiologische Technik
  • [ISO-abbreviation] Rontgenpraxis
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 11
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12. van der Geer S, Ostertag JU, Krekels GA: Treatment of basal cell carcinomas in patients with nevoid basal cell carcinoma syndrome. J Eur Acad Dermatol Venereol; 2009 Mar;23(3):308-13
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Treatment of basal cell carcinomas in patients with nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple basal cell carcinomas (BCCs).
  • [MeSH-major] Basal Cell Nevus Syndrome / therapy. Skin Neoplasms / therapy

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  • (PMID = 19207641.001).
  • [ISSN] 1468-3083
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Aminoquinolines; 99011-02-6 / imiquimod
  • [Number-of-references] 51
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13. Pruvost-Balland C, Gorry P, Boutet N, Magnaldo T, Mamelle G, Margulis A, Kolb F, Duvillard P, Spatz A, Brugières L, Chompret A, Avril MF: [Clinical and genetic study in 22 patients with basal cell nevus syndrome]. Ann Dermatol Venereol; 2006 Feb;133(2):117-23
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Clinical and genetic study in 22 patients with basal cell nevus syndrome].
  • [Transliterated title] Etude clinique et recherche de mutations germinales du gène PTCH 1 dans le syndrome des hamartomes basocellulaires.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by developmental abnormalities and cancer predisposition.
  • The PTCH 1 gene, the human homolog of the Drosophila segment polarity gene patched, has been shown to be involved in the development of nevoid basal cell carcinoma syndrome.
  • The aim of the present study was to report on clinical and genetic characteristics in patients followed for nevoid basal cell carcinoma syndrome and to compare them to the data in the literature.
  • PATIENTS AND METHODS: Screening for PTCH 1 mutations was done in 22 patients followed between 1981 and 2003 for clinical suspicion of nevoid basal cell carcinoma syndrome.
  • RESULTS: All patients had developed basal cell carcinomas: 45% palmar and plantar pitting, 62% jaw cysts and 66% calcification of falx cerebri.
  • [MeSH-major] Basal Cell Nevus Syndrome
  • [MeSH-minor] Adolescent. Adult. Age Factors. Aged. Aged, 80 and over. Chromosomes, Human, Pair 9 / genetics. Female. Germ-Line Mutation. Humans. Male. Middle Aged. Receptors, Cell Surface / genetics. Retrospective Studies. Sex Factors

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  • [CommentIn] Ann Dermatol Venereol. 2007 Jan;134(1):75 [17384552.001]
  • (PMID = 16508594.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] Comparative Study; English Abstract; Journal Article; Review
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Number-of-references] 22
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14. Wallin JL, Tanna N, Misra S, Puri PK, Sadeghi N: Sinonasal carcinoma after irradiation for medulloblastoma in nevoid basal cell carcinoma syndrome. Am J Otolaryngol; 2007 Sep-Oct;28(5):360-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Sinonasal carcinoma after irradiation for medulloblastoma in nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is associated with multiple basal cell carcinomas, odontogenic cysts, craniofacial anomalies, and childhood medulloblastomas.
  • METHODS: We present a 19-year-old man with NBCCS who presented with a sinonasal carcinoma 17 years after receiving craniospinal irradiation for treatment of medulloblastoma.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Neoplasms, Radiation-Induced / surgery. Paranasal Sinus Neoplasms / etiology. Paranasal Sinus Neoplasms / surgery. Radiotherapy / adverse effects

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  • (PMID = 17826543.001).
  • [ISSN] 0196-0709
  • [Journal-full-title] American journal of otolaryngology
  • [ISO-abbreviation] Am J Otolaryngol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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15. Wiedemeyer K, Hartschuh W: Trichoblastomas with Merkel cell proliferation in nevi sebacei in Schimmelpenning-Feuerstein-Mims syndrome--histological differentiation between trichoblastomas and basal cell carcinomas. J Dtsch Dermatol Ges; 2009 Jul;7(7):612-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Trichoblastomas with Merkel cell proliferation in nevi sebacei in Schimmelpenning-Feuerstein-Mims syndrome--histological differentiation between trichoblastomas and basal cell carcinomas.
  • The hallmark of Schimmelpenning-Feuerstein-Mims syndrome (SFMS) is a systematized nevus sebaceous that follows Blaschko lines and usually involves the face.
  • It represents a rare congenital nevus syndrome with alterations of skin, bones, CNS, eyes and heart.
  • Nevi sebacei can proliferate and develop into epithelial tumors like trichoblastoma, syringocystadenoma and basal cell carcinoma.
  • The histological differentiation between basal cell carcinoma and trichoblastoma is difficult.
  • She was referred to us with the diagnosis of multiple basal cell carcinomas of head and face.
  • Our diagnosis of systematized nevus sebaceus was crucial for the correct classification of SFMS.
  • We identified multiple trichoblastomas in the nevi sebacei and could exclude basal cell carcinomas.
  • [MeSH-major] Carcinoma, Merkel Cell / pathology. Merkel Cells / pathology. Nevus, Sebaceous of Jadassohn / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Adult. Carcinoma, Basal Cell / pathology. Cell Proliferation. Diagnosis, Differential. Female. Humans

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  • (PMID = 19192012.001).
  • [ISSN] 1610-0387
  • [Journal-full-title] Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
  • [ISO-abbreviation] J Dtsch Dermatol Ges
  • [Language] eng; ger
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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16. Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelli F, Scarrà GB: Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. Child Care Health Dev; 2005 May;31(3):351-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.
  • BACKGROUND: Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable expressivity and age-related manifestations.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis

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  • (PMID = 15840155.001).
  • [ISSN] 0305-1862
  • [Journal-full-title] Child: care, health and development
  • [ISO-abbreviation] Child Care Health Dev
  • [Language] eng
  • [Grant] Italy / Telethon / / GTF04003
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Codon, Nonsense
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17. Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, Barile M, Gliori S, Muggianu M, Ghigliotti G, Lacaita MG, Lo Muzio L, Bianchi-Scarra G: Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat; 2005 Mar;25(3):322-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.
  • Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS, also called Gorlin Syndrome).
  • Patients display an array of developmental anomalies and are prone to develop a variety of tumors, with multiple Basal Cell Carcinomas occurring frequently.
  • We provide here the results of molecular testing of a set of Italian Nevoid Basal Cell Carcinoma Syndrome patients.
  • Twelve familial patients belonging to 7 kindreds and 5 unaffected family members, 6 non-familial patients and an additional set of 7 patients with multiple Basal Cell Carcinoma but no other criteria for the disease were examined for mutations in the PTCH gene.
  • All of the Nevoid Basal Cell Carcinoma Syndrome patients were found to carry variants of the PTCH gene.
  • None of the patients with multiple Basal Cell Carcinoma but no other criteria for the syndrome, carried germline coding region mutations.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Codon, Nonsense. Frameshift Mutation. Mutation, Missense. Point Mutation. RNA Splice Sites / genetics. Receptors, Cell Surface / genetics

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  • [Copyright] (c) 2005 Wiley-Liss, Inc.
  • (PMID = 15712338.001).
  • [ISSN] 1098-1004
  • [Journal-full-title] Human mutation
  • [ISO-abbreviation] Hum. Mutat.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / RNA Splice Sites; 0 / Receptors, Cell Surface; 0 / patched receptors
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18. Tachi N, Fujii K, Kimura M, Seki K, Hirakai M, Miyashita T: New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome. Pediatr Neurol; 2007 Nov;37(5):363-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome.
  • Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, congenital hydrocephalus, intracranial neoplasms, and mental retardation.
  • A few cases of epilepsy with nevoid basal-cell carcinoma syndrome were reported.
  • We report on a patient with nevoid basal-cell carcinoma syndrome and West syndrome.
  • This mutation was not found in previously described patients with nevoid basal-cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Brain Neoplasms / genetics. Mutation / genetics. Receptors, Cell Surface / genetics. Spasms, Infantile / genetics

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  • (PMID = 17950424.001).
  • [ISSN] 0887-8994
  • [Journal-full-title] Pediatric neurology
  • [ISO-abbreviation] Pediatr. Neurol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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19. Eslami B, Lorente C, Kieff D, Caruso PA, Faquin WC: Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2008 Jun;105(6):e10-3
Genetic Alliance. consumer health - Nevoid basal cell carcinoma syndrome.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by a wide range of clinical signs and symptoms.
  • The major criteria for the diagnosis are multiple cutaneous basal cell carcinomas, multiple odontogenic keratocysts of the jaw, palmar and plantar pits, and skeletal abnormalities.
  • [MeSH-major] Ameloblastoma / etiology. Basal Cell Nevus Syndrome / complications. Jaw Neoplasms / complications. Maxillary Neoplasms / etiology
  • [MeSH-minor] Aged. Chromosomes, Human, Pair 9. Female. Humans. Receptors, Cell Surface / genetics

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  • (PMID = 18417377.001).
  • [ISSN] 1528-395X
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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20. Lam EW, Lee L, Perschbacher SE, Pharoah MJ: The occurrence of keratocystic odontogenic tumours in nevoid basal cell carcinoma syndrome. Dentomaxillofac Radiol; 2009 Oct;38(7):475-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The occurrence of keratocystic odontogenic tumours in nevoid basal cell carcinoma syndrome.
  • OBJECTIVES: This retrospective study reviews the occurrence of keratocystic odontogenic tumours (KOTs) in nevoid basal cell carcinoma syndrome (NBCCS) patients seen in the Oral and Maxillofacial Radiology Special Procedures Clinic in the Faculty of Dentistry at the University of Toronto.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Odontogenic Tumors / pathology

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  • (PMID = 19767519.001).
  • [ISSN] 0250-832X
  • [Journal-full-title] Dento maxillo facial radiology
  • [ISO-abbreviation] Dentomaxillofac Radiol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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21. Alcalay J, Ben-Amitai D, Alkalay R: Idiopathic basal cell carcinoma in children. J Drugs Dermatol; 2008 May;7(5):479-81
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Idiopathic basal cell carcinoma in children.
  • Basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer in humans, and is the most common malignant neoplasm among adults in the US.
  • Childhood onset of BCC is rare and usually associated with genetic disorders such as basal cell nevus syndrome, Bazex syndrome, albinism, and xeroderma pigmentosum or due to radiation therapy.
  • A total of 108 children including this patient were reported with idiopathic de novo BCC.
  • Basal cell carcinoma in children is probably the result of genetic background and intense ultraviolet radiation exposure.
  • [MeSH-major] Carcinoma, Basal Cell / pathology. Skin Neoplasms / pathology

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  • (PMID = 18505143.001).
  • [ISSN] 1545-9616
  • [Journal-full-title] Journal of drugs in dermatology : JDD
  • [ISO-abbreviation] J Drugs Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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22. Li TJ, Yuan JW, Gu XM, Sun LS, Zhao HS: PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients. Oral Dis; 2008 Mar;14(2):174-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients.
  • OBJECTIVES: PTCH, the human homologue of the Drosophila segment polarity gene, patched, has been identified as the gene responsible for nevoid basal cell carcinoma syndrome.
  • The aim of this study was to investigate PTCH gene mutation in Chinese patients with nevoid basal cell carcinoma syndrome.
  • MATERIALS AND METHODS: DNA was isolated from both odontogenic keratocyst tissue and peripheral blood of five patients with syndrome and one patient with only multiple odontogenic keratocysts, and mutational analysis of the PTCH gene performed by direct sequencing after amplification of all 23 exons by polymerase chain reaction (PCR).
  • Three novel germline PTCH mutations (c.1338_1339insGCG, c.331delG and c.1939A>T) were detected in three unrelated patients with syndrome.
  • The patient with multiple odontogenic keratocysts who failed to fulfill the diagnostic criteria of the syndrome also carried a novel germline mutation (c.317T>G).
  • CONCLUSION: The frequent germline PTCH mutations detected in our series provide further evidence for the crucial role of PTCH in the pathogenesis of nevoid basal cell carcinoma syndrome in Chinese.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation / genetics. Odontogenic Cysts / genetics. Odontogenic Tumors / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18302678.001).
  • [ISSN] 1354-523X
  • [Journal-full-title] Oral diseases
  • [ISO-abbreviation] Oral Dis
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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23. Xu LL, Li TJ: [PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome]. Beijing Da Xue Xue Bao; 2008 Feb 18;40(1):15-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome].
  • OBJECTIVE: To investigate alterations in PTCH2 in keratocystic odontogenic tumors (KCOT) associated with nevoid basal cell carcinoma syndrome (NBCCS).
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Odontogenic Cysts / genetics. Odontogenic Tumors / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18278130.001).
  • [ISSN] 1671-167X
  • [Journal-full-title] Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
  • [ISO-abbreviation] Beijing Da Xue Xue Bao
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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24. de Zwaan SE, Haass NK: Genetics of basal cell carcinoma. Australas J Dermatol; 2010 May;51(2):81-92; quiz 93-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Genetics of basal cell carcinoma.
  • Basal cell carcinoma is the most common human malignancy in populations of European origin, and Australia has the highest incidence of basal cell carcinoma in the world.
  • Mutations of the patched 1 gene (PTCH1) lead to basal cell carcinoma predisposition in Gorlin syndrome.
  • PTCH1 is part of the hedgehog signalling pathway, and derangements within this pathway are now known to be important in the carcinogenesis of many different cancers including sporadic basal cell carcinoma.
  • The molecular biology of the hedgehog pathway is discussed, and mouse models of basal cell carcinoma based on this pathway are explored.
  • New developments in non-surgical treatment of basal cell carcinoma are based on this knowledge.
  • Other genes of importance to basal cell carcinoma development include the tumour suppressor gene P53 and the melanocortin-1 receptor gene.
  • [MeSH-major] Carcinoma, Basal Cell / genetics. Receptors, Cell Surface / genetics. Skin Neoplasms / genetics
  • [MeSH-minor] Animals. Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / therapy. Disease Models, Animal. Genetic Predisposition to Disease. Hedgehog Proteins / genetics. Humans. Mice. Mutation. Receptor, Melanocortin, Type 1 / genetics. Tumor Suppressor Protein p53 / genetics

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  • (PMID = 20546211.001).
  • [ISSN] 1440-0960
  • [Journal-full-title] The Australasian journal of dermatology
  • [ISO-abbreviation] Australas. J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] Australia
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / Receptor, Melanocortin, Type 1; 0 / Receptors, Cell Surface; 0 / Tumor Suppressor Protein p53; 0 / patched receptors
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25. de Meij TG, Baars MJ, Gille JJ, Hack WW, Haasnoot K, van Hagen JM: [From gene to disease: basal cell naevus syndrome]. Ned Tijdschr Geneeskd; 2005 Jan 8;149(2):78-81

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [From gene to disease: basal cell naevus syndrome].
  • Nevoid basal cell carcinoma syndrome (NBCCS, basal cell naevus syndrome, Gorlin syndrome) is an autosomal dominant disorder, caused by mutations in the PTCH gene mapped to chromosome 9q22.3.
  • It is characterised by multiple basal cell carcinomas, keratocysts of the jaws, palmar and plantar pits, cerebral ectopic calcification and several skeletal anomalies.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromosomes, Human, Pair 9. Genes, Tumor Suppressor. Membrane Proteins / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 15688838.001).
  • [ISSN] 0028-2162
  • [Journal-full-title] Nederlands tijdschrift voor geneeskunde
  • [ISO-abbreviation] Ned Tijdschr Geneeskd
  • [Language] dut
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Membrane Proteins; 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Number-of-references] 8
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26. Sobota A, Pena M, Santi M, Ali Ahmed A: Undifferentiated sinonasal carcinoma in a patient with nevoid basal cell carcinoma syndrome. Int J Surg Pathol; 2007 Jul;15(3):303-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Undifferentiated sinonasal carcinoma in a patient with nevoid basal cell carcinoma syndrome.
  • Nevoid basal cell carcinoma syndrome is an autosomal dominant multisystem disorder characterized by developmental anomalies and occurrence of multiple basal cell carcinomas and other tumors in early childhood.
  • In this article, the authors report a case of a 19-year-old African American male with nevoid basal cell carcinoma syndrome and a history of medulloblastoma at age 2, meningioma at age 14, thyroid follicular adenomas with papillary carcinoma at age 15, and 2 basal cell carcinomas at ages 16 and 18.
  • Recently, he developed sinonasal undifferentiated carcinoma (SNUC).
  • The radiology and pathology of the sinonasal carcinoma are presented in this report.
  • Review of the literature reveals that this is the first case of SNUC occurring in a patient with nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Carcinoma / etiology. Nose Neoplasms / etiology


27. Song YL, Zhang WF, Peng B, Wang CN, Wang Q, Bian Z: Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome. Tumour Biol; 2006;27(4):175-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome.
  • BACKGROUND/AIMS: Odontogenic keratocysts (OKC) are aggressive lesions in the jaws, which can occur as isolated cases or in association with nevoid basal cell carcinoma syndrome (NBCCS).
  • Three novel germline mutations in PTCH were identified, including a missense mutation (p.S1089 > P) in family 1, a nonsense mutation (p.Q160X) in family 2 and a de novo mutation (c.768_777delGACAAACTTC) in family 3.
  • The results suggest that germline mutations on PTCH can cause isolated OKC, and that the PTCH gene responsible for NBCCS plays an important role in the formation of OKCs even when they are not syndrome-related.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation. Odontogenic Cyst, Calcifying / genetics. Receptors, Cell Surface / genetics

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  • [Copyright] Copyright 2006 S. Karger AG, Basel.
  • (PMID = 16675912.001).
  • [ISSN] 1010-4283
  • [Journal-full-title] Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine
  • [ISO-abbreviation] Tumour Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptors, Cell Surface; 9007-49-2 / DNA
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28. Tanioka M, Takahashi K, Kawabata T, Kosugi S, Murakami K, Miyachi Y, Nishigori C, Iizuka T: Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. Arch Dermatol Res; 2005 Jan;296(7):303-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.
  • We identified seven novel germline mutations of the PTCH gene in eight unrelated Japanese patients with nevoid basal cell carcinoma syndrome (NBCCS).
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Germ-Line Mutation. Membrane Proteins / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 15565302.001).
  • [ISSN] 0340-3696
  • [Journal-full-title] Archives of dermatological research
  • [ISO-abbreviation] Arch. Dermatol. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Membrane Proteins; 0 / Receptors, Cell Surface; 0 / patched receptors
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29. Epstein EH: Basal cell carcinomas: attack of the hedgehog. Nat Rev Cancer; 2008 Oct;8(10):743-54
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  • [Title] Basal cell carcinomas: attack of the hedgehog.
  • Basal cell carcinomas (BCCs) were essentially a molecular 'black box' until some 12 years ago, when identification of a genetic flaw in a rare subset of patients who have a great propensity to develop BCCs pointed to aberrant Hedgehog signalling as the pivotal defect leading to formation of these tumours.

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  • (PMID = 18813320.001).
  • [ISSN] 1474-1768
  • [Journal-full-title] Nature reviews. Cancer
  • [ISO-abbreviation] Nat. Rev. Cancer
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA109584-06; United States / NCI NIH HHS / CA / R01 CA115992; United States / NCI NIH HHS / CA / R01 CA109584; United States / NCI NIH HHS / CA / CA115992; United States / NIAMS NIH HHS / AR / AR050440; United States / NIAMS NIH HHS / AR / P01 AR050440
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antineoplastic Agents; 0 / Hedgehog Proteins; 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Number-of-references] 199
  • [Other-IDs] NLM/ NIHMS354845; NLM/ PMC4457317
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30. Figueroa A, Correnti M, Avila M, Andea A, DeVilliers P, Rivera H: Keratocystic odontogenic tumor associated with nevoid basal cell carcinoma syndrome: similar behavior to sporadic type? Otolaryngol Head Neck Surg; 2010 Feb;142(2):179-83
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Keratocystic odontogenic tumor associated with nevoid basal cell carcinoma syndrome: similar behavior to sporadic type?
  • OBJECTIVE: The objective of this study was to analyze the expression of proliferative markers and p53 in keratocystic odontogenic tumor (KCOT) sporadic type and KCOT associated with nevoid basal cell carcinoma syndrome (NBCCS).
  • Immunohistochemical analysis for p53, proliferating cell nuclear antigen (PCNA), and Ki-67 was performed in all 19 cases.
  • [MeSH-major] Basal Cell Nevus Syndrome / metabolism. Basal Cell Nevus Syndrome / pathology. Biomarkers, Tumor / analysis. Odontogenic Cysts / metabolism. Odontogenic Cysts / pathology
  • [MeSH-minor] Cross-Sectional Studies. Humans. Immunohistochemistry. Ki-67 Antigen / analysis. Neoplasm Invasiveness. Proliferating Cell Nuclear Antigen / analysis. Tumor Suppressor Protein p53 / analysis

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  • [Copyright] Copyright 2010 American Academy of Otolaryngology-Head and Neck Surgery Foundation. Published by Mosby, Inc. All rights reserved.
  • (PMID = 20115971.001).
  • [ISSN] 1097-6817
  • [Journal-full-title] Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
  • [ISO-abbreviation] Otolaryngol Head Neck Surg
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Ki-67 Antigen; 0 / Proliferating Cell Nuclear Antigen; 0 / Tumor Suppressor Protein p53
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31. Katase N, Nagatsuka H, Tsujigiwa H, Gunduz M, Tamamura R, Pwint HP, Rivera RS, Nakajima M, Naomoto Y, Nagai N: Analysis of the neoplastic nature and biological potential of sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumor. J Oral Pathol Med; 2007 Oct;36(9):550-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Analysis of the neoplastic nature and biological potential of sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumor.
  • BACKGROUND: Keratocystic odontogenic tumor (KCOT), also known as odontogenic keratocyst, is a benign cystic neoplasm, which may be associated with nevoid basal cell carcinoma syndrome (NBCCS) and if it does, will occur as multiple cystic lesions.
  • [MeSH-major] Basal Cell Nevus Syndrome / enzymology. Glucuronidase / biosynthesis. Odontogenic Cysts / enzymology. Odontogenic Tumors / enzymology

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  • (PMID = 17850439.001).
  • [ISSN] 0904-2512
  • [Journal-full-title] Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
  • [ISO-abbreviation] J. Oral Pathol. Med.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Heparan Sulfate Proteoglycans; EC 3.2.1.- / heparanase; EC 3.2.1.31 / Glucuronidase
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32. Rupprecht M, Mensing CH, Barvencik F, Ittrich H, Heiland M, Rueger JM, Amling M, Pogoda P: [Skeletal and dermatological manifestations of the nevoid Basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years]. Rofo; 2007 Jun;179(6):618-26
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  • [Title] [Skeletal and dermatological manifestations of the nevoid Basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years].
  • PURPOSE: In 1960 Gorlin and Goltz defined the nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz Syndrome) as a syndrome comprising multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies.
  • NBCCS is an autosomal dominantly inherited disease with an estimated prevalence of 1:150,000 and diagnosis of this syndrome is often an accidental finding of radiological investigations.
  • The purpose of this study was to report the varied radiological and dermatological manifestations of our patients affected with NBCCS and to present this rare syndrome as a differential diagnosis of skeletal anomalies.
  • Nevoid basal cell carcinoma syndrome was diagnosed in the event of two major or one major and two minor criteria.
  • The major criteria are more than 2 basal cell carcinoma, odontogenic keratocysts, three or more palmar pits, and calcification of the falx cerebri.
  • The major criteria with the most frequency were the basal cell carcinoma (6 patients) and the odontogenic keratocysts (5 patients), followed by the calcification of the falx cerebri and palmoplantar pits (4 patients).
  • [MeSH-major] Basal Cell Nevus Syndrome / radiography. Bone Neoplasms / radiography. Carcinoma, Basal Cell / radiography. Skin Neoplasms / radiography

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  • (PMID = 17492539.001).
  • [ISSN] 1438-9029
  • [Journal-full-title] RöFo : Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
  • [ISO-abbreviation] Rofo
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 42
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33. Feito-Rodríguez M, Sendagorta-Cudós E, Moratinos-Martínez M, González-Beato MJ, de Lucas-Laguna R, Pizarro A: Dermatoscopic characteristics of acrochordon-like basal cell carcinomas in Gorlin-Goltz syndrome. J Am Acad Dermatol; 2009 May;60(5):857-61
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  • [Title] Dermatoscopic characteristics of acrochordon-like basal cell carcinomas in Gorlin-Goltz syndrome.
  • BACKGROUND: Gorlin-Goltz syndrome (GGS) is an autosomal-dominant disease characterized by the early onset of multiple basal cell carcinomas (BCCs), among other findings.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Skin Neoplasms / pathology

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  • (PMID = 19233510.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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34. Griffin JR, Cohen PR, Tschen JA, Mullans EA, Schulze KE, Martinelli PT, Nelson BR: Basal cell carcinoma in childhood: case report and literature review. J Am Acad Dermatol; 2007 Nov;57(5 Suppl):S97-102
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Basal cell carcinoma in childhood: case report and literature review.
  • Childhood onset basal cell carcinoma is uncommon.
  • In addition to occurring in children with albinism, Bazex syndrome, basal cell carcinoma nevus syndrome, nevus sebaceus, radiotherapy-treated cancers, solid organ transplants, and xeroderma pigmentosum, childhood onset basal cell carcinoma has also occurred, albeit less commonly, de novo.
  • We describe a boy with idiopathic childhood onset basal cell carcinoma.
  • Previously published children with de novo basal cell carcinoma were collected from computerized medical literature search (PubMed) and citations from earlier reports.
  • To our knowledge, childhood onset idiopathic basal cell carcinoma has been observed in a total of 107 children, including our patient.
  • Basal cell carcinoma in children may be associated with prior sun exposure.
  • [MeSH-major] Carcinoma, Basal Cell / pathology. Nose Neoplasms / pathology. Skin Neoplasms / pathology

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  • (PMID = 17938034.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 61
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35. Zhou SH, Li LL, Jian XC, Jiang CH: [A case of nevoid basal cell carcinoma syndrome family]. Hua Xi Kou Qiang Yi Xue Za Zhi; 2008 Feb;26(1):109-11
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  • [Title] [A case of nevoid basal cell carcinoma syndrome family].
  • Nevoid basal cell carcinoma syndrome is a rare autosomal dominant genetic disorder characterized by developmental abnormalities and tumorigenesis.
  • In this paper, a case of nevoid basal cell carcinoma syndrome family was reported, and its incidence, pathogenesis, clinical features and methods of treatment were discussed by reviewing relevant literatures.
  • [MeSH-major] Basal Cell Nevus Syndrome

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  • (PMID = 18357899.001).
  • [ISSN] 1000-1182
  • [Journal-full-title] Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology
  • [ISO-abbreviation] Hua Xi Kou Qiang Yi Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] China
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36. Friedrich RE: Diagnosis and treatment of patients with nevoid basal cell carcinoma syndrome [Gorlin-Goltz syndrome (GGS)]. Anticancer Res; 2007 Jul-Aug;27(4A):1783-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diagnosis and treatment of patients with nevoid basal cell carcinoma syndrome [Gorlin-Goltz syndrome (GGS)].
  • BACKGROUND: The nevoid basal cell carcinoma syndrome (NBCC) is a rare and autosomal dominant inherited disease with well-defined characteristics, summarized by Gorlin and Goltz in 1960.
  • In the head and neck region, cerebral calcifications, basal cell carcinoma (BCC) and multiple keratocysts of the jaws are the predominant findings.
  • RESULTS: The age at the time of first surgical treatment related to the syndrome was 3 to 57 years (mean: 21.3 years).
  • The number of patients with characteristic head and neck findings in the spectrum of NBCC varied: basal cell carcinoma (n = 15), keratocysts of the jaws (n = 13), cerebral calcification visible on plain radiographs (n = 15), palmar pits (n = 9).
  • The medical histories revealed a cleft lip and palate in 2, and unilateral kidney agenesis in further 2 patients, emphasizing the variability of the syndrome.
  • CONCLUSION: The NBCC is a well-known syndrome with a variety of findings inside and outside the head and neck region.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Basal Cell Nevus Syndrome / surgery

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  • (PMID = 17649773.001).
  • [ISSN] 0250-7005
  • [Journal-full-title] Anticancer research
  • [ISO-abbreviation] Anticancer Res.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Greece
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37. Reifenberger J: [Basal cell carcinoma. Molecular genetics and unusual clinical features]. Hautarzt; 2007 May;58(5):406-11
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  • [Title] [Basal cell carcinoma. Molecular genetics and unusual clinical features].
  • Basal cell carcinoma is the most common human cancer.
  • The development of basal cell carcinoma is linked to genetic factors, including the individual skin phototype, as well as the cumulative exposure to UVB.
  • The vast majority of basal cell carcinomas are sporadic tumors, while familial cases associated with certain hereditary syndromes are less common.
  • At the molecular level, basal cell carcinomas are characterized by aberrant activation of sonic hedgehog signaling, usually due to mutations either in the ptch or smoh genes.
  • Clinically, basal cell carcinomas may show a high degree of phenotypical variability.
  • This review article summarizes the current state of the art concerning the etiology, predisposition and molecular genetics of basal cell carcinoma.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Cell Transformation, Neoplastic / genetics. Neoplasms, Radiation-Induced / genetics. Skin Neoplasms / genetics. Ultraviolet Rays / adverse effects

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  • (PMID = 17440702.001).
  • [ISSN] 0017-8470
  • [Journal-full-title] Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
  • [ISO-abbreviation] Hautarzt
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / SHH protein, human
  • [Number-of-references] 34
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38. Brailey LL, Davis T, Kolker SE, Murry TC, Thomas D, Bale AE, Ruhoy SM: Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies. J Cutan Pathol; 2007 Jan;34(1):65-70
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies.
  • BACKGROUND: Linear unilateral basal cell nevus represents a linear collection of macules and papules histologically similar to basal cell carcinoma but with benign clinical behavior.
  • We describe a patient who initially presented at the age of 6 months with a unilateral linear basal cell nevus on the right flank.
  • The differential diagnosis included the nevoid basal cell carcinoma syndrome.
  • Constitutional PTCH mutations are causative of the nevoid basal cell carcinoma syndrome, and somatic PTCH mutations are found in the vast majority of basal cell carcinomas.
  • Somatic SMO mutations have also been found in some basal cell carcinomas.
  • RESULTS: Histologic examination revealed features initially indistinguishable from basal cell carcinoma.
  • CONCLUSION: Molecular examination indicates that the PTCH and SMO genes are not involved in the pathogenesis of the patients' congenital linear unilateral basal cell nevus.
  • Furthermore, we discuss the relationship between linear basal cell nevus and basaloid follicular hamartoma.
  • [MeSH-major] Nevus / genetics. Nevus / pathology. Skin Neoplasms / genetics. Skin Neoplasms / pathology. Thigh
  • [MeSH-minor] DNA, Neoplasm. Diagnosis, Differential. Humans. Infant. Loss of Heterozygosity. Microsatellite Repeats. Mutation. Receptors, Cell Surface / genetics. Receptors, G-Protein-Coupled / genetics

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  • (PMID = 17214858.001).
  • [ISSN] 0303-6987
  • [Journal-full-title] Journal of cutaneous pathology
  • [ISO-abbreviation] J. Cutan. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / Receptors, Cell Surface; 0 / Receptors, G-Protein-Coupled; 0 / SMO protein, human; 0 / patched receptors
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39. Ueda M, Kanematsu A, Nishiyama H, Yoshimura K, Watanabe K, Yorifuji T, Mikami Y, Kamoto T, Ogawa O: Testicular thecoma in an 11-year-old boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome). J Pediatr Surg; 2010 Mar;45(3):E1-3
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  • [Title] Testicular thecoma in an 11-year-old boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome).
  • We report a case of testicular thecoma in an 11-year-old Japanese boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome).
  • Ovarian thecoma-fibroma group tumors are closely associated with Gorlin syndrome or with abnormalities in PTCH, a candidate gene for the syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Testicular Neoplasms / diagnosis. Thecoma / diagnosis

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  • (PMID = 20223301.001).
  • [ISSN] 1531-5037
  • [Journal-full-title] Journal of pediatric surgery
  • [ISO-abbreviation] J. Pediatr. Surg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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40. Ramaglia L, Morgese F, Pighetti M, Saviano R: Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2006 Aug;102(2):217-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review.
  • Nevoid basal cell carcinoma syndrome (NBCCS), an autosomal dominant disorder with a high degree of penetrance and variable expressivity, is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology

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  • (PMID = 16876065.001).
  • [ISSN] 1528-395X
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 19
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41. Madan V, Loncaster JA, Allan D, Lear JT, Sheridan L, Leach C, Allan E: Nodular basal cell carcinoma in Gorlin's syndrome treated with systemic photodynamic therapy and interstitial optical fiber diffuser laser. J Am Acad Dermatol; 2006 Nov;55(5 Suppl):S86-9
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  • [Title] Nodular basal cell carcinoma in Gorlin's syndrome treated with systemic photodynamic therapy and interstitial optical fiber diffuser laser.
  • Nodular basal cell carcinomas resistant to multiple forms of treatment in two patients with nevoid basal cell carcinoma syndrome (Gorlin's syndrome) were treated with systemic porfimer sodium-based photodynamic therapy.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Carcinoma, Basal Cell / drug therapy. Photochemotherapy. Skin Neoplasms / drug therapy

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  • (PMID = 17052541.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Photosensitizing Agents; 97067-70-4 / Dihematoporphyrin Ether
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42. Saran A: Basal cell carcinoma and the carcinogenic role of aberrant Hedgehog signaling. Future Oncol; 2010 Jun;6(6):1003-14
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Basal cell carcinoma and the carcinogenic role of aberrant Hedgehog signaling.
  • Basal cell carcinoma (BCC) is the most frequent cancer in the white population and its incidence appears to be increasing worldwide.
  • While the majority of BCCs arise sporadically, many cases are attributable to basal cell nevus syndrome, or Gorlin syndrome, an autosomal dominantly inherited disorder characterized by the occurrence of multiple BCCs and by extracutaneous tumors.
  • Genetic studies on patients with basal cell nevus syndrome indicate deregulation of the Hedgehog (Hh) pathway in epidermal keratinocytes as the primary event in the pathogenesis of BCC.
  • [MeSH-major] Carcinoma, Basal Cell / genetics. Cell Transformation, Neoplastic / genetics. Hedgehog Proteins / physiology. Neoplasm Proteins / physiology. Signal Transduction / physiology. Skin Neoplasms / genetics
  • [MeSH-minor] Animals. Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / pathology. Cilia / physiology. DNA Repair. Forkhead Transcription Factors / physiology. Hair Follicle / growth & development. Humans. Keratinocytes / metabolism. Mammals / genetics. Mice. Mice, Knockout. Mice, Transgenic. PTEN Phosphohydrolase / physiology. Receptors, Cell Surface / deficiency. Receptors, Cell Surface / genetics. Receptors, Cell Surface / physiology. Receptors, G-Protein-Coupled / genetics. Receptors, G-Protein-Coupled / physiology. Repressor Proteins / deficiency. Repressor Proteins / genetics. Repressor Proteins / physiology. Skin / growth & development. Wnt Proteins / physiology

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  • (PMID = 20528237.001).
  • [ISSN] 1744-8301
  • [Journal-full-title] Future oncology (London, England)
  • [ISO-abbreviation] Future Oncol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Forkhead Transcription Factors; 0 / Hedgehog Proteins; 0 / Neoplasm Proteins; 0 / Receptors, Cell Surface; 0 / Receptors, G-Protein-Coupled; 0 / Repressor Proteins; 0 / SMO protein, human; 0 / SUFU protein, human; 0 / Smo protein, mouse; 0 / Sufu protein, mouse; 0 / Wnt Proteins; 0 / patched receptors; EC 3.1.3.67 / PTEN Phosphohydrolase
  • [Number-of-references] 150
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43. Choudry Q, Patel HC, Gurusinghe NT, Evans DG: Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance. Childs Nerv Syst; 2007 Jan;23(1):133-6
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  • [Title] Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance.
  • INTRODUCTION: We report two cases of radiation-induced intracranial tumours after treatment for medulloblastoma presenting in children with nevoid basal cell carcinoma syndrome.
  • [MeSH-minor] Adolescent. Adult. Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / physiopathology. Female. Humans. Infant. Male

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  • [Cites] Br J Cancer. 1991 Nov;64(5):959-61 [1931625.001]
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  • (PMID = 16977487.001).
  • [ISSN] 0256-7040
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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44. Zhang XB, Zhang SQ, Li CX, Huang ZM, Luo YW: Acitretin systemic and retinoic acid 0.1% cream supression of basal cell carcinoma. Dermatol Reports; 2010 Jan 18;2(1):e4

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acitretin systemic and retinoic acid 0.1% cream supression of basal cell carcinoma.
  • Retinoids have been used for years as monotherapy and/or in combination for treatment and suppression of cutaneous malignancies in patients with basal cell nevus syndrome, xeroderma pigmentosum, or cutaneous T-cell lymphoma (CTCL) basal cell carcinoma (BCC).

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  • (PMID = 25386240.001).
  • [ISSN] 2036-7392
  • [Journal-full-title] Dermatology reports
  • [ISO-abbreviation] Dermatol Reports
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Italy
  • [Other-IDs] NLM/ PMC4211482
  • [Keywords] NOTNLM ; acitretin / basal cell carcinoma.
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45. Balasundram S, Kovilpillai FJ, Hopper C: Nevoid basal cell carcinoma syndrome presenting with neck pits and café au lait patches. J Clin Pediatr Dent; 2010;35(1):95-100
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid basal cell carcinoma syndrome presenting with neck pits and café au lait patches.
  • RESULTS: Clinical examination also revealed macrocephaly, fronto-parietal bossing, pitting on palmar and plantar surfaces, calcification of falx cerebri and splayed ribs, confirming the diagnosis of nevoid basal cell carcinoma syndrome.
  • The family history was negative for features of nevoid basal cell carcinoma syndrome.
  • CONCLUSION: Nevoid basal cell carcinoma syndrome is a condition that can cause significant morbidity if not detected early.
  • Over the years this syndrome has presented with many other non specific phenotype presentation, of which the current finding may be one of This calls for meticulous assessment and examination of patients and a standardized protocol in screening and managing these patients that may facilitate a more beneficial outcome for the patient.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Cafe-au-Lait Spots / diagnosis. Neck / pathology. Skin Abnormalities / diagnosis

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  • (PMID = 21189772.001).
  • [ISSN] 1053-4628
  • [Journal-full-title] The Journal of clinical pediatric dentistry
  • [ISO-abbreviation] J Clin Pediatr Dent
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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46. Nasir S, Kayikcioglu A, Aydin MA, Tunçbilek G: Coverage of the cranium with latissimus dorsi in the recurrent basal cell carcinoma of Gorlin syndrome: for protection against clinical invasion. J Craniofac Surg; 2006 May;17(3):599-602
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Coverage of the cranium with latissimus dorsi in the recurrent basal cell carcinoma of Gorlin syndrome: for protection against clinical invasion.
  • Gorlin's syndrome is a genetic disorder of autosomal dominant inheritance with characterized primarily by five major findings: multiple basal cell carsinoma (BCC), jaw cysts, pits on the palms and soles, ectopic calcification of the falx cerebri and skeletal anomalies.
  • BCC is the most frequently accompanied tumor with this syndrome.
  • The risk of recurrent BCC with Gorlin's syndrome is higher than non-syndromic BCC.
  • The authors present a 25-year-old man affected by recurrent basal cell carcinoma on the scalp.
  • Free flap reconstruction for recurrent scalp BCC can be best therapy model at Gorlin's syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / surgery. Carcinoma, Basal Cell / surgery. Muscle, Skeletal / transplantation. Scalp / surgery. Skin Neoplasms / surgery. Skull / surgery

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  • (PMID = 16770207.001).
  • [ISSN] 1049-2275
  • [Journal-full-title] The Journal of craniofacial surgery
  • [ISO-abbreviation] J Craniofac Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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47. Le Brun Keris Y, Jouk PS, Saada-Sebag G, Roux JJ, Mattei B, Bagait L, Paoloni-Giacobino A, Grandchamp B, Soufir N, Lespinasse J: Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome. Eur J Med Genet; 2008 Sep-Oct;51(5):472-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.
  • We report here a three generations family with nevoid basal cell carcinoma syndrome (NBCCS) in which the diagnosis was made only after a second trimester of pregnancy ultrasonography revealing fetal cranio-cerebral malformations.
  • MC1R gene sequencing identified in two NBCCS patients affected by multiple basal cell carcinomas a functional MC1R variant, D294H, previously shown to be associated with skin cancer risk.
  • This variant was absent in the NBCCS patient that did not develop basal cell carcinomas, suggesting that this variant could have favored the development of skin cancers, in patients carrying the PTCH1 mutation.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics
  • [MeSH-minor] Corpus Callosum / pathology. Craniofacial Abnormalities / diagnosis. Craniofacial Abnormalities / genetics. Exons. Family Health. Female. Gene Deletion. Humans. Mutation. Pedigree. Pregnancy. Prenatal Diagnosis. Receptor, Melanocortin, Type 1 / genetics. Receptors, Cell Surface / genetics. Saint Kitts and Nevis

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  • (PMID = 18539553.001).
  • [ISSN] 1769-7212
  • [Journal-full-title] European journal of medical genetics
  • [ISO-abbreviation] Eur J Med Genet
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Receptor, Melanocortin, Type 1; 0 / Receptors, Cell Surface; 0 / patched receptors
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48. Leonardi R, Santarelli A, Barbato E, Ciavarella D, Bolouri S, Härle F, Palazzo G, Lo Muzio L: Atlanto-occipital ligament calcification: a novel sign in nevoid basal cell carcinoma syndrome. Anticancer Res; 2010 Oct;30(10):4265-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Atlanto-occipital ligament calcification: a novel sign in nevoid basal cell carcinoma syndrome.
  • BACKGROUND: The nevoid basal cell carcinoma syndrome (NBCCS), first described by Gorlin and Goltz in 1960, is a hereditary autosomal dominant disease with high penetrance and variable expressivity.
  • [MeSH-major] Atlanto-Occipital Joint / pathology. Basal Cell Nevus Syndrome / pathology. Calcinosis / pathology

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  • (PMID = 21036751.001).
  • [ISSN] 1791-7530
  • [Journal-full-title] Anticancer research
  • [ISO-abbreviation] Anticancer Res.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Greece
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49. Smucker PS, Smith JL: Multifocal desmoplastic medulloblastoma in an african-american child with nevoid basal cell carcinoma (gorlin) syndrome. Case report. J Neurosurg; 2006 Oct;105(4 Suppl):315-20
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multifocal desmoplastic medulloblastoma in an african-american child with nevoid basal cell carcinoma (gorlin) syndrome. Case report.
  • The authors present the case of a 2.5-year-old African-American boy with desmoplastic medulloblastoma (MB) and nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, an autosomal dominant disorder resulting from mutations in the patched (PTCH) gene that predisposes to neoplasias (including basal cell carcinomas [BCCs] and MB) and to widespread congenital malformations.
  • [MeSH-major] African Americans. Basal Cell Nevus Syndrome / diagnosis. Brain Neoplasms / diagnosis. Cerebellar Neoplasms / diagnosis. Cerebral Ventricle Neoplasms / diagnosis. Medulloblastoma / diagnosis. Neoplasms, Multiple Primary / diagnosis
  • [MeSH-minor] Child, Preschool. Cranial Fossa, Posterior. Humans. Magnetic Resonance Imaging. Male. Mutation. Receptors, Cell Surface / genetics


50. Nishigori C, Arima Y, Matsumura Y, Matsui M, Miyachi Y: Impaired removal of 8-hydroxydeoxyguanosine induced by UVB radiation in naevoid basal cell carcinoma syndrome cells. Br J Dermatol; 2005 Dec;153 Suppl 2:52-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Impaired removal of 8-hydroxydeoxyguanosine induced by UVB radiation in naevoid basal cell carcinoma syndrome cells.
  • BACKGROUND: The naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by tumorigenesis such as multiple basal cell carcinomas, odontogenic keratocysts and developmental abnormalities such as calcified dural folds and rib-anomalies.
  • RESULTS: All three cell strains derived from the patients with NBCCS were hypersensitive to killing by UVB (D10: 50-70% of normal) but not by UVC.
  • In normal cells, 8-OHdG after UVB exposure returned to its basal level during 24 h, whereas in NBCCS cells the amount of 8-OHdG after 800 J m-2 of UVB exposure did not return to its basal level even after 24 h.
  • Hypersensitivity to cell killing and the impairment of removal of 8-OHdG after UVB exposure may play some role in developing BCCs and other tumours in NBCCS.
  • [MeSH-major] Basal Cell Nevus Syndrome / metabolism. Deoxyguanosine / analogs & derivatives. Photosensitivity Disorders / metabolism. Skin Neoplasms / metabolism. Ultraviolet Rays / adverse effects
  • [MeSH-minor] Adolescent. Adult. Case-Control Studies. Cell Death. Cells, Cultured. Chromatography, High Pressure Liquid. Dimerization. Dose-Response Relationship, Radiation. Female. Humans. Male. Middle Aged. Thymine / metabolism

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  • (PMID = 16280022.001).
  • [ISSN] 0007-0963
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 88847-89-6 / 8-oxo-7-hydrodeoxyguanosine; G9481N71RO / Deoxyguanosine; QR26YLT7LT / Thymine
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51. Caro I, Low JA: The role of the hedgehog signaling pathway in the development of basal cell carcinoma and opportunities for treatment. Clin Cancer Res; 2010 Jul 1;16(13):3335-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The role of the hedgehog signaling pathway in the development of basal cell carcinoma and opportunities for treatment.
  • The most extensively investigated and best characterized is basal cell carcinoma (BCC), which occurs in both an inherited form (basal cell nevus syndrome or Gorlin's syndrome) and a sporadic form.
  • [MeSH-major] Carcinoma, Basal Cell / metabolism. Hedgehog Proteins / metabolism. Skin Neoplasms / metabolism
  • [MeSH-minor] Basal Cell Nevus Syndrome / metabolism. Humans. Ligands. Receptors, G-Protein-Coupled / metabolism. Signal Transduction

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  • (PMID = 20439455.001).
  • [ISSN] 1078-0432
  • [Journal-full-title] Clinical cancer research : an official journal of the American Association for Cancer Research
  • [ISO-abbreviation] Clin. Cancer Res.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / Ligands; 0 / Receptors, G-Protein-Coupled; 0 / SMO protein, human
  • [Number-of-references] 25
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52. Marsh A, Wicking C, Wainwright B, Chenevix-Trench G: DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. Hum Mutat; 2005 Sep;26(3):283
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.
  • Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by multiple basal cell carcinomas, palmar and plantar pitting, odontogenic keratocysts of the jaws and bilamellar calcification of the falx.
  • The mutation frequency was similar in inherited and de novo cases.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Chromatography, High Pressure Liquid / methods. DNA Mutational Analysis / methods. Mutation, Missense. Receptors, Cell Surface / genetics. Skin Neoplasms / genetics. Sterols / chemistry

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  • (PMID = 16088933.001).
  • [ISSN] 1098-1004
  • [Journal-full-title] Human mutation
  • [ISO-abbreviation] Hum. Mutat.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / Sterols; 0 / patched receptors
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53. Lane JE, Allen JH, Lane TN, Lesher JL Jr: Unilateral Basal cell carcinomas: an unusual entity treated with photodynamic therapy. J Cutan Med Surg; 2005 Dec;9(6):336-40
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  • [Title] Unilateral Basal cell carcinomas: an unusual entity treated with photodynamic therapy.
  • BACKGROUND: Unilateral localized basal cell carcinomas are an uncommon finding that presents both a diagnostic and therapeutic challenge.
  • Exclusion of unilateral nevoid basal cell carcinoma syndrome is indicated.
  • OBJECTIVE: We present a patient with unilateral localized basal cell carcinomas who was successfully treated with photodynamic therapy.
  • The patient had an excellent therapeutic response with no clinically apparent basal cell carcinomas for 18 months.
  • CONCLUSIONS: We report a patient with unilateral basal cell carcinomas successfully treated with photodynamic therapy.
  • This uncommon entity represents a diagnostic challenge in its inherent absence of the classic clinical and radiographic findings of nevoid basal cell carcinoma syndrome.
  • Like nevoid basal cell carcinoma syndrome, unilateral basal cell carcinomas poses a therapeutic challenge with the sheer number of cutaneous tumors.
  • [MeSH-major] Aminolevulinic Acid / therapeutic use. Carcinoma, Basal Cell / drug therapy. Photochemotherapy. Photosensitizing Agents / therapeutic use. Skin Neoplasms / drug therapy
  • [MeSH-minor] Basal Cell Nevus Syndrome / diagnosis. Diagnosis, Differential. Follow-Up Studies. Humans. Male. Middle Aged. Time Factors. Treatment Outcome

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  • (PMID = 16699902.001).
  • [ISSN] 1203-4754
  • [Journal-full-title] Journal of cutaneous medicine and surgery
  • [ISO-abbreviation] J Cutan Med Surg
  • [Language] eng
  • [Publication-type] Case Reports; Comparative Study; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Photosensitizing Agents; 88755TAZ87 / Aminolevulinic Acid
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54. Fujii K, Ishikawa S, Uchikawa H, Komura D, Shapero MH, Shen F, Hung J, Arai H, Tanaka Y, Sasaki K, Kohno Y, Yamada M, Jones KW, Aburatani H, Miyashita T: High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome. Hum Genet; 2007 Dec;122(5):459-66
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome.
  • In this study, we used newly designed high-resolution oligonucleotide microarrays with a median distance between the probes of 776 bp (average probe interval 2,271 bp) to detect gene deletions in nevoid basal cell carcinoma syndrome (NBCCS) patients.
  • NBCCS, also called Gorlin syndrome, is characterized by developmental defects and tumorigenesis such as medulloblastomas and basal cell carcinomas, caused by mutations of the human patched-1 (PTCH1) gene.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Sequence Deletion
  • [MeSH-minor] Base Sequence. Child. Chromosomes, Human, Pair 9 / genetics. DNA Mutational Analysis. DNA, Neoplasm / genetics. Humans. Male. Molecular Sequence Data. Oligonucleotide Array Sequence Analysis / methods. Patched Receptors. Patched-1 Receptor. Receptors, Cell Surface / genetics. Sequence Homology, Nucleic Acid

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  • (PMID = 17703323.001).
  • [ISSN] 1432-1203
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptors, Cell Surface
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55. Mougel F, Debarbieux S, Ronger-Savlé S, Dalle S, Thomas L: Methylaminolaevulinate photodynamic therapy in patients with multiple basal cell carcinomas in the setting of Gorlin-Goltz syndrome or after radiotherapy. Dermatology; 2009;219(2):138-42
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Methylaminolaevulinate photodynamic therapy in patients with multiple basal cell carcinomas in the setting of Gorlin-Goltz syndrome or after radiotherapy.
  • BACKGROUND: The naevoid basal cell carcinoma syndrome (NBCCS) is a therapeutic challenge due to the multiplicity of cutaneous tumours.
  • Photodynamic therapy (PDT) is increasingly used as an alternative treatment for superficial and in some countries nodular basal cell carcinomas (BCC).
  • [MeSH-major] Aminolevulinic Acid / therapeutic use. Basal Cell Nevus Syndrome / drug therapy. Basal Cell Nevus Syndrome / radiotherapy. Neoplasm Recurrence, Local / pathology. Photochemotherapy / methods. Skin Neoplasms / drug therapy

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  • [Copyright] Copyright 2009 S. Karger AG, Basel.
  • (PMID = 19590166.001).
  • [ISSN] 1421-9832
  • [Journal-full-title] Dermatology (Basel, Switzerland)
  • [ISO-abbreviation] Dermatology (Basel)
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 88755TAZ87 / Aminolevulinic Acid
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56. Efron PA, Chen MK, Glavin FL, Kays DW, Beierle EA: Pediatric basal cell carcinoma: case reports and literature review. J Pediatr Surg; 2008 Dec;43(12):2277-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Pediatric basal cell carcinoma: case reports and literature review.
  • Basal cell carcinoma (BCC) is a rare disease in the pediatric population that usually presents in children with predisposing genetic conditions.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Carcinoma, Basal Cell / diagnosis. Nose Neoplasms / diagnosis. Skin Neoplasms / diagnosis
  • [MeSH-minor] Adolescent. Age Factors. Biomarkers, Tumor. Child. Child, Preschool. Diagnosis, Differential. Female. Hernia, Inguinal / complications. Hernia, Inguinal / surgery. Humans. Incidental Findings. Male. Neoplasms, Basal Cell / diagnosis. Neoplasms, Radiation-Induced / diagnosis. Neoplasms, Radiation-Induced / pathology. Neoplasms, Radiation-Induced / surgery. Reoperation. Risk Factors

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  • (PMID = 19040953.001).
  • [ISSN] 1531-5037
  • [Journal-full-title] Journal of pediatric surgery
  • [ISO-abbreviation] J. Pediatr. Surg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
  • [Number-of-references] 18
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57. Pan S, Dong Q, Sun LS, Li TJ: Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis. Clin Cancer Res; 2010 Jan 15;16(2):442-50
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.
  • PURPOSE: PTCH1 has been identified as the gene responsible for nevoid basal cell carcinoma syndrome (NBCCS).
  • The distribution of two-hit, one-hit, and non-hit cases was significantly different between syndrome and nonsyndrome patients (P < 0.02).
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Gingival Neoplasms / genetics. Models, Genetic. Receptors, Cell Surface / genetics

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  • (PMID = 20068110.001).
  • [ISSN] 1078-0432
  • [Journal-full-title] Clinical cancer research : an official journal of the American Association for Cancer Research
  • [ISO-abbreviation] Clin. Cancer Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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58. Li J, Wang J, Liu Y, Wang W: Analysis of mutation in exon 17 of PTCH in patients with nevoid basal cell carcinoma syndrome. Mol Biol Rep; 2010 Jan;37(1):359-62
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Analysis of mutation in exon 17 of PTCH in patients with nevoid basal cell carcinoma syndrome.
  • Abnormalities in sonic hedgehog (SHH) signaling pathway components are major contributing factors in the development of nevoid basal cell carcinoma syndromes (NBCCS) that include SHH, PTCH, SMO and GLI.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Exons / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 19728145.001).
  • [ISSN] 1573-4978
  • [Journal-full-title] Molecular biology reports
  • [ISO-abbreviation] Mol. Biol. Rep.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / GLI1 protein, human; 0 / Receptors, Cell Surface; 0 / Transcription Factors; 0 / patched receptors
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59. Sasaki R, Saito K, Watanabe Y, Takayama Y, Fujii K, Agawa K, Miyashita T, Ando T, Akizuki T: Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations. J Hum Genet; 2009 Jul;54(7):398-402
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  • [Title] Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities and a predisposition to cancers.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Cleft Lip / complications. Cleft Palate / complications. Genetic Predisposition to Disease. Mutation / genetics. Receptors, Cell Surface / genetics


60. So PL, Fujimoto MA, Epstein EH Jr: Pharmacologic retinoid signaling and physiologic retinoic acid receptor signaling inhibit basal cell carcinoma tumorigenesis. Mol Cancer Ther; 2008 May;7(5):1275-84
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  • [Title] Pharmacologic retinoid signaling and physiologic retinoic acid receptor signaling inhibit basal cell carcinoma tumorigenesis.
  • Basal cell carcinoma (BCC) is the most common human cancer.
  • Patients with basal cell nevus syndrome (Gorlin syndrome) are highly susceptible to developing many BCCs as a result of a constitutive inactivating mutation in one allele of PATCHED 1, which encodes a tumor suppressor that is a major inhibitor of Hedgehog signaling.
  • In vitro, tazarotene inhibited a murine BCC keratinocyte cell line, ASZ001, suggesting that its effect in vivo is by direct action on the actual tumor cells.
  • Furthermore, inhibition of basal RAR signaling in the skin promoted BCC carcinogenesis, suggesting that endogenous RAR signaling restrains BCC growth.

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  • (PMID = 18483315.001).
  • [ISSN] 1535-7163
  • [Journal-full-title] Molecular cancer therapeutics
  • [ISO-abbreviation] Mol. Cancer Ther.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA109584-06; United States / NCI NIH HHS / CA / U19 CA081888; United States / NCI NIH HHS / CA / CA109584; United States / NCI NIH HHS / CA / CA81888; United States / NCI NIH HHS / CA / R01 CA109584
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anticarcinogenic Agents; 0 / Hedgehog Proteins; 0 / Nicotinic Acids; 0 / Receptors, Retinoic Acid; 0 / Retinoids; 81BDR9Y8PS / tazarotene
  • [Other-IDs] NLM/ NIHMS354844; NLM/ PMC4457328
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61. Leonardi R, Licciardello V, Santarelli A, Ciavarella D, Bolouri S, Härle F, Caltabiano M, Lo Muzio L: Nevoid Basal cell carcinoma syndrome: a cephalometric study of patients and controls. J Craniofac Surg; 2009 Jan;20(1):203-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid Basal cell carcinoma syndrome: a cephalometric study of patients and controls.
  • Craniofacial morphology of patients with nevoid basal cell carcinoma syndrome (NBCCS) has sometimes been reported at clinical examination, but any investigation has described it on the basis of cephalometric measurements.The purpose of this study was to conduct a cephalometric analysis of patients with NBCCS and to compare measurements with non-NBCCS subjects of similar ages, to elucidate if there is any relationship between NBCCS and craniofacial morphology.The study population consisted of 14 adult patients (9 men and 5 women), ranging in age from 18.2 to 56.8 years, with the diagnosis of NBCCS, with good-quality lateral cephalometric radiographs, and 14 adult healthy patients matched for age and sex to the NBCCS group.
  • On the contrary, the facial convexity (P <or= 0.0189) and the mandibular arc angle (P <or= 0.0378) were reduced in NBCCS subjects.According to these findings, NBCCS patients presented a sagittal lengthening of the anterior cranial base and maxilla and a vertically and horizontally overdeveloped mandible, together with the features of a long-face syndrome with a large gonial angle.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Cephalometry / methods. Face. Facial Bones / pathology. Skull / pathology

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  • (PMID = 19165028.001).
  • [ISSN] 1536-3732
  • [Journal-full-title] The Journal of craniofacial surgery
  • [ISO-abbreviation] J Craniofac Surg
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
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62. Tang JY, Aszterbaum M, Athar M, Barsanti F, Cappola C, Estevez N, Hebert J, Hwang J, Khaimskiy Y, Kim A, Lu Y, So PL, Tang X, Kohn MA, McCulloch CE, Kopelovich L, Bickers DR, Epstein EH Jr: Basal cell carcinoma chemoprevention with nonsteroidal anti-inflammatory drugs in genetically predisposed PTCH1+/- humans and mice. Cancer Prev Res (Phila); 2010 Jan;3(1):25-34
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Basal cell carcinoma chemoprevention with nonsteroidal anti-inflammatory drugs in genetically predisposed PTCH1+/- humans and mice.
  • In vitro and epidemiologic studies favor the efficacy of nonsteroidal anti-inflammatory drugs (NSAID) in preventing skin squamous photocarcinogenesis, but there has been relatively little study of their efficacy in preventing the more common skin basal cell carcinoma (BCC) carcinogenesis.
  • We then assessed the effects of celecoxib on the development of BCCs in a 3-year, double-blinded, randomized clinical trial in 60 (PTCH1(+/-)) patients with the basal cell nevus syndrome.
  • [MeSH-major] Anti-Inflammatory Agents, Non-Steroidal / therapeutic use. Carcinoma, Basal Cell / prevention & control. Genetic Predisposition to Disease. Pyrazoles / therapeutic use. Receptors, Cell Surface / genetics. Skin Neoplasms / prevention & control. Sulfonamides / therapeutic use
  • [MeSH-minor] Animals. Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / drug therapy. Basal Cell Nevus Syndrome / genetics. Celecoxib. Chemoprevention. Cyclooxygenase 1 / genetics. Cyclooxygenase 2 / genetics. Double-Blind Method. Heterozygote. Humans. Mice. Mice, Mutant Strains. Patched Receptors. Patched-1 Receptor

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  • (PMID = 20051370.001).
  • [ISSN] 1940-6215
  • [Journal-full-title] Cancer prevention research (Philadelphia, Pa.)
  • [ISO-abbreviation] Cancer Prev Res (Phila)
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / U19 CA081888; United States / NCRR NIH HHS / RR / M01 RR000079; United States / NCRR NIH HHS / RR / 5 M01 RR-00079; United States / NCI NIH HHS / CA / CA81888; United States / NCRR NIH HHS / RR / KL2 RR024130; United States / NCI NIH HHS / CN / CN-95116; United States / NCRR NIH HHS / RR / M01 RR000079-410580
  • [Publication-type] Clinical Trial, Phase II; Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anti-Inflammatory Agents, Non-Steroidal; 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Ptch1 protein, mouse; 0 / Pyrazoles; 0 / Receptors, Cell Surface; 0 / Sulfonamides; EC 1.14.99.1 / Cyclooxygenase 1; EC 1.14.99.1 / Cyclooxygenase 2; JCX84Q7J1L / Celecoxib
  • [Other-IDs] NLM/ NIHMS212706; NLM/ PMC2894531
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63. Oseroff AR, Shieh S, Frawley NP, Cheney R, Blumenson LE, Pivnick EK, Bellnier DA: Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy. Arch Dermatol; 2005 Jan;141(1):60-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy.
  • OBJECTIVE: To report the use of wide-area 5-aminolevulinic acid photodynamic therapy to treat numerous basal cell carcinomas (BCCs) and basaloid follicular hamartomas (BFHs).
  • [MeSH-major] Aminolevulinic Acid / therapeutic use. Basal Cell Nevus Syndrome / drug therapy. Hamartoma Syndrome, Multiple / drug therapy. Photochemotherapy. Photosensitizing Agents / therapeutic use. Skin Neoplasms / drug therapy

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  • (PMID = 15655143.001).
  • [ISSN] 0003-987X
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA16056; United States / NCI NIH HHS / CA / P01-CA55791
  • [Publication-type] Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Photosensitizing Agents; 88755TAZ87 / Aminolevulinic Acid
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64. Giuliani M, Di Stefano L, Zoccali G, Angelone E, Leocata P, Mascaretti G: Gorlin syndrome associated with basal cell carcinoma of the vulva: A case report. Eur J Gynaecol Oncol; 2006;27(5):519-22
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin syndrome associated with basal cell carcinoma of the vulva: A case report.
  • Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a hereditary condition transmitted as an autosomal dominant trait with high penetrance and variable expressivity.
  • The syndrome is characterized by numerous manifestations: basal cell carcinomas (BCCs) and odontogenic keratocysts (OKCs) are the leading ones.
  • In this article a typical Gorlin syndrome case associated with basal cell carcinoma of the vulva is described.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Vulvar Neoplasms / complications

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  • (PMID = 17139991.001).
  • [ISSN] 0392-2936
  • [Journal-full-title] European journal of gynaecological oncology
  • [ISO-abbreviation] Eur. J. Gynaecol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Italy
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65. Matysik-Woźniak A, Gerkowicz M, Pawłowska-Wakowicz B: Basal cell carcinoma in an eyelid of a farmer with Sturge-Weber syndrome. Ann Agric Environ Med; 2007;14(2):325-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Basal cell carcinoma in an eyelid of a farmer with Sturge-Weber syndrome.
  • The paper presents the coexistence of a nevus flammeus and basal cell carcinoma affecting the left upper lid of 61-year-old farmer with Sturge-Weber syndrome.
  • The occurrence of basal cell carcinoma in nevus flammeus is extremely rare.
  • It is difficult to diagnose neoplastic transformations that could arise in the nevus flammeus.
  • [MeSH-major] Carcinoma, Basal Cell / diagnosis. Eyelid Neoplasms / diagnosis
  • [MeSH-minor] Diagnosis, Differential. Humans. Male. Middle Aged. Sturge-Weber Syndrome / complications. Sturge-Weber Syndrome / pathology. Sunlight / adverse effects. Treatment Outcome

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  • (PMID = 18247471.001).
  • [ISSN] 1232-1966
  • [Journal-full-title] Annals of agricultural and environmental medicine : AAEM
  • [ISO-abbreviation] Ann Agric Environ Med
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Poland
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66. Sasaki R, Miyashita T, Matsumoto N, Fujii K, Saito K, Ando T: Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2010 Aug;110(2):e41-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities and a predisposition to cancers.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Basal Cell Nevus Syndrome / genetics. Mandibular Neoplasms / etiology. Maxillary Neoplasms / etiology. Odontogenic Tumors / etiology. Receptors, Cell Surface / genetics

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  • [Copyright] Copyright 2010 Mosby, Inc. All rights reserved.
  • (PMID = 20659694.001).
  • [ISSN] 1528-395X
  • [Journal-full-title] Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
  • [ISO-abbreviation] Oral Surg Oral Med Oral Pathol Oral Radiol Endod
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Ki-67 Antigen; 0 / Receptors, Cell Surface; 0 / patched receptors; 136601-57-5 / Cyclin D1; 68238-35-7 / Keratins
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67. Scully C, Langdon J, Evans J: Marathon of eponyms: 7 Gorlin-Goltz syndrome (Naevoid basal-cell carcinoma syndrome). Oral Dis; 2010 Jan;16(1):117-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Marathon of eponyms: 7 Gorlin-Goltz syndrome (Naevoid basal-cell carcinoma syndrome).
  • This document summarizes data about Gorlin-Goltz syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome. Eponyms

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  • (PMID = 20331807.001).
  • [ISSN] 1601-0825
  • [Journal-full-title] Oral diseases
  • [ISO-abbreviation] Oral Dis
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Denmark
  • [Number-of-references] 8
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68. Bhattacharjee P, Leffell D, McNiff JM: Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome. J Cutan Pathol; 2005 Oct;32(9):638-41
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant disorder characterized by developmental abnormalities and neoplasms including basal cell carcinoma (BCC) and sarcomas (i.e. leiomyosarcoma, rhabdomyosarcoma, and fibrosarcoma).
  • Primary cutaneous carcinosarcoma (PCC), a rare tumor composed of malignant epithelial and mesenchymal components, has never been previously described in association with this syndrome.
  • Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinosarcoma / pathology. Neoplasms, Multiple Primary / pathology. Skin Neoplasms / pathology

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  • (PMID = 16176303.001).
  • [ISSN] 0303-6987
  • [Journal-full-title] Journal of cutaneous pathology
  • [ISO-abbreviation] J. Cutan. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
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69. Neves DR, Ramos DG, Magalhães GM, Rodrigues Rda C, Souza JB: Photodynamic therapy for treatment of multiple lesions on the scalp in nevoid basal cell carcinoma syndrome: case report. An Bras Dermatol; 2010 Jul-Aug;85(4):545-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Photodynamic therapy for treatment of multiple lesions on the scalp in nevoid basal cell carcinoma syndrome: case report.
  • Nevoid Basal Cell Carcinoma Syndrome is a genodermatosis characterized by multiples basal cell carcinomas occurring at an early age, compelling patients to various surgeries, some of them disfiguring.
  • The aim of this article is to show the excellent result of the treatment of multiple basal cell carcinomas on the scalp of a patient suffering from Nevoid Basal Cell Carcinoma Syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Head and Neck Neoplasms / drug therapy. Photochemotherapy / methods. Scalp. Skin Neoplasms / drug therapy


70. Motegi S, Nagai Y, Tamura A, Ishikawa O: Multiple skin cysts in nevoid basal cell carcinoma syndrome: a case report and review of the literature. Dermatology; 2008;216(2):159-62
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple skin cysts in nevoid basal cell carcinoma syndrome: a case report and review of the literature.
  • We report a 72-year-old man with nevoid basal cell carcinoma syndrome (NBCCS) who presented with 25 skin cysts on his trunk and extremities.
  • However, 4 skin cysts (4/16; 25%) showed a corrugated or festooned inner surface of wall without a granular cell layer, which resembled an odontogenic keratocyst, a characteristic feature of skin cysts in NBCCS.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Cysts / complications. Skin Neoplasms / complications


71. Schweiger ES, Kwasniak L, Tonkovic-Capin V: A patient with neviod basal cell carcinoma syndrome treated successfully with photodynamic therapy: case report and review of the literature. J Drugs Dermatol; 2010 Feb;9(2):167-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A patient with neviod basal cell carcinoma syndrome treated successfully with photodynamic therapy: case report and review of the literature.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is a genetic disorder characterized by multiple basal cell carcinomas (BCCs) in addition to skeletal abnormalities and other neoplasms.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Photochemotherapy. Skin Neoplasms / drug therapy

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  • (PMID = 20214182.001).
  • [ISSN] 1545-9616
  • [Journal-full-title] Journal of drugs in dermatology : JDD
  • [ISO-abbreviation] J Drugs Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 11
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72. Nijhof HW, Bouwman LH, Jukema GN: [Basal cell naevus syndrome as the cause of a chronic foot ulcer]. Ned Tijdschr Geneeskd; 2006 Sep 16;150(37):2043-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Basal cell naevus syndrome as the cause of a chronic foot ulcer].
  • He had previously been diagnosed with basal cell naevus syndrome but had withdrawn from follow-up.
  • There was a nodular skin defect over the first metatarsophalangeal joint, which was shown by histopathology to be a basal cell carcinoma, and the ulcer was bordered by a raised wall.
  • Further physical examination revealed more than 200 dermal lesions which were identified by the dermatologist who was called in for consultation as basal cell carcinomas; multiple depressions due to abnormal local keratinisation were also seen on the palms of the hands and the soles of the feet.
  • These findings led to a diagnosis of 'basal cell naevus syndrome'.
  • The patient was treated by amputation of the lower leg followed by excision and curettage of the remaining basal cell carcinomas.
  • Basal cell naevus syndrome is a rare autosomal dominant hereditary disease.
  • Basal cell naevus syndrome is generally caused by a mutation in the 'patched homolog' (PTCH)-I gene, located on chromosome 9q22.3.
  • Although the syndrome affects multiple organ systems, the most characteristic of this disorder is the appearance of multiple basal cell carcinomas.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Foot Ulcer / etiology. Skin Neoplasms / complications

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  • (PMID = 17058463.001).
  • [ISSN] 0028-2162
  • [Journal-full-title] Nederlands tijdschrift voor geneeskunde
  • [ISO-abbreviation] Ned Tijdschr Geneeskd
  • [Language] dut
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Netherlands
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73. Lü Y, Zhu HG, Ye WM, Zhang MB, He D, Chen WT: A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome. Chin Med J (Engl); 2008 Jan 20;121(2):118-21
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome.
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation.
  • CONCLUSIONS: Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation. Receptors, Cell Surface / genetics

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  • (PMID = 18272036.001).
  • [ISSN] 0366-6999
  • [Journal-full-title] Chinese medical journal
  • [ISO-abbreviation] Chin. Med. J.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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74. Davari P, Hebert JL, Albertson DG, Huey B, Roy R, Mancianti ML, Horvai AE, McDaniel LD, Schultz RA, Epstein EH Jr: Loss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice. Carcinogenesis; 2010 Jun;31(6):968-73
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Loss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice.
  • Basal cell carcinomas (BCCs) have relative genomic stability and relatively benign clinical behavior but whether these two are related causally is unknown.
  • The mutant Blm alleles also markedly enhanced the formation of rhabdomyosarcomas (RMSs), another cancer to which Ptch1(+/)(-) mice and PTCH1(+/)(-) (basal cell nevus syndrome) patients are susceptible.

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  • (PMID = 19995795.001).
  • [ISSN] 1460-2180
  • [Journal-full-title] Carcinogenesis
  • [ISO-abbreviation] Carcinogenesis
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA81888; United States / NCI NIH HHS / CA / CA84118
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.6.1.- / Bloom syndrome protein; EC 3.6.4.12 / RecQ Helicases
  • [Other-IDs] NLM/ PMC2878356
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75. Habibi A, Jafarzadeh H: Nevoid basal cell carcinoma syndrome: a 17-year study of 19 cases in Iranian population (1991-2008). J Oral Pathol Med; 2010 Oct;39(9):677-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nevoid basal cell carcinoma syndrome: a 17-year study of 19 cases in Iranian population (1991-2008).
  • BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary autosomal dominant disorder with a wide range of clinical signs and symptoms.
  • The major criteria are more than two basal cell carcinoma, keratocystic odontogenic tumor, three or more palmar pits, and calcification of the falx cerebri, spine and rib anomalies, and a family history of the syndrome.
  • METHODS: This study reports 19 cases in an Iranian population and presents this rare syndrome as a differential diagnosis of skeletal anomalies.
  • Basal cell carcinoma (8 patients), and the average number was 14.7 calcification of the falx cerebri (17 patients), palmo-plantar pits (14 patients), mild hypertelorism (10 patients), and bilateral cleft lip and palate (1 patient).
  • Only one patient was affected with an unusual case of NBCCS in a 30-year-old man with an associated squamous cell carcinoma of the maxillary sinus.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology

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  • [Copyright] © 2010 John Wiley & Sons A/S.
  • (PMID = 20456618.001).
  • [ISSN] 1600-0714
  • [Journal-full-title] Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
  • [ISO-abbreviation] J. Oral Pathol. Med.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Denmark
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76. Soufir N, Gerard B, Portela M, Brice A, Liboutet M, Saiag P, Descamps V, Kerob D, Wolkenstein P, Gorin I, Lebbe C, Dupin N, Crickx B, Basset-Seguin N, Grandchamp B: PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study. Br J Cancer; 2006 Aug 21;95(4):548-53
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study.
  • The patched (PTCH) mutation rate in nevoid basal cell carcinoma syndrome (NBCCS) reported in various studies ranges from 40 to 80%.
  • However, few studies have investigated the role of PTCH in clinical conditions suggesting an inherited predisposition to basal cell carcinoma (BCC), although it has been suggested that PTCH polymorphisms could predispose to multiple BCC (MBCC).
  • Eleven new germline alterations of the PTCH gene were characterised in 12 out of 17 patients harbouring the full complement of criteria for the syndrome (70%).
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / genetics. Gene Deletion. Mutation. Receptors, Cell Surface / genetics. Skin Neoplasms / genetics

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  • (PMID = 16909134.001).
  • [ISSN] 0007-0920
  • [Journal-full-title] British journal of cancer
  • [ISO-abbreviation] Br. J. Cancer
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Other-IDs] NLM/ PMC2360669
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77. Pribila JT, Ronan SM, Trobe JD: Multiple intracranial meningiomas causing papilledema and visual loss in a patient with nevoid Basal cell carcinoma syndrome. J Neuroophthalmol; 2008 Mar;28(1):41-6
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  • [Title] Multiple intracranial meningiomas causing papilledema and visual loss in a patient with nevoid Basal cell carcinoma syndrome.
  • A 27-year-old man with nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) who had undergone craniospinal irradiation for a childhood brain stem medulloblastoma complained of progressive binocular visual loss.
  • [MeSH-major] Basal Cell Nevus Syndrome / complications. Brain Neoplasms / complications. Meningioma / complications. Neoplasms, Multiple Primary / complications. Papilledema / etiology. Radiotherapy / adverse effects. Vision, Low / etiology


78. Klein RD, Dykas DJ, Bale AE: Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med; 2005 Nov-Dec;7(9):611-9
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  • [Title] Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.
  • PURPOSE: This study determines which clinical features predict positive test results among samples submitted for DNA-based diagnostic nevoid basal cell carcinoma syndrome (NBCCS) testing, and further defines the mutational spectrum of the PTCH gene.
  • Of these, 26 had jaw cysts in combination with other characteristics or neoplasms including basal cell carcinomas, palmar pits, skeletal abnormalities, ocular abnormalities, medulloblastomas, cardiac or ovarian fibromas, calcification of the falx cerebri, polydactyly, cleft lip and/or palate, and agenesis of the corpus callosum or other central nervous system malformations.
  • None of the 13 pedigrees solely affected by multiple or early-onset basal cell carcinomas and none of the four pedigrees with jaw cysts alone had PTCH mutations.
  • Pedigrees with multiple or early-onset basal cell carcinomas without other features of the disease did not test positive for PTCH mutations.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Genetic Testing / statistics & numerical data. Receptors, Cell Surface / genetics

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  • (PMID = 16301862.001).
  • [ISSN] 1098-3600
  • [Journal-full-title] Genetics in medicine : official journal of the American College of Medical Genetics
  • [ISO-abbreviation] Genet. Med.
  • [Language] eng
  • [Grant] United States / NIGMS NIH HHS / GM / 5T32GM008753; United States / NCI NIH HHS / CA / R01CA93908
  • [Publication-type] Comparative Study; Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers; 0 / Receptors, Cell Surface; 0 / patched receptors
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79. Sugaya S, Nakanishi H, Tanzawa H, Sugita K, Kita K, Suzuki N: Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells. Mutat Res; 2005 Oct 15;578(1-2):327-32
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  • [Title] Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells.
  • Fibroblast cells derived from nevoid basal carcinoma syndrome (NBCCS) patients show increased levels of DNA synthesis after X-ray irradiation.
  • Genes, whose expression is modulated in association with the DNA synthesis induction, were searched by using PCR-based mRNA differential display analysis in one of the NBCCS cell lines, NBCCS1 cells.
  • This decrease was also shown by RT-PCR analysis in another cell line, NBCCS3 cells.
  • [MeSH-major] Basal Cell Nevus Syndrome / metabolism. DNA, Neoplasm / biosynthesis. Down-Regulation / radiation effects. Gene Expression Regulation, Neoplastic / radiation effects. Ubiquitins / metabolism. X-Rays
  • [MeSH-minor] Cell Line, Tumor. Ethidium / metabolism. Fibroblasts / metabolism. Fibroblasts / radiation effects. Flow Cytometry. Humans. Kinetics. Oligonucleotides, Antisense / pharmacology. RNA, Messenger / analysis. Reverse Transcriptase Polymerase Chain Reaction. Sequence Analysis, DNA. Transcription, Genetic

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  • (PMID = 16154602.001).
  • [ISSN] 0027-5107
  • [Journal-full-title] Mutation research
  • [ISO-abbreviation] Mutat. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / Oligonucleotides, Antisense; 0 / RNA, Messenger; 0 / SUMO3 protein, human; 0 / Ubiquitins; EN464416SI / Ethidium
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80. Badri T, Zeglaoui F, Kochbati L, Kooli H, El Fekih N, Fazaa B, Kamoun MR: [Multiple basal cell carcinomas following radiation therapy for nasopharyngeal cancer]. Presse Med; 2006 Jan;35(1 Pt 1):55-7
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  • [Title] [Multiple basal cell carcinomas following radiation therapy for nasopharyngeal cancer].
  • INTRODUCTION: Basal cell carcinoma (BCC) is a cutaneous, generally primary malignancy, most common among the elderly.
  • Eleven years earlier, she had had an undifferentiated nasopharyngeal carcinoma (T3N2M0), which was treated by neoadjuvant chemotherapy and then external radiation therapy.
  • Neither clinical nor radiological check up showed signs of basal cell nevus syndrome.
  • Disorders that might promote or complicate BCC should be systematically sought in young patients, especially basal cell nevus syndrome.
  • While our patient may have had this syndrome, we found none of the other clinical or radiographic elements often observed with it.
  • [MeSH-major] Carcinoma, Basal Cell / etiology. Nasopharyngeal Neoplasms / radiotherapy. Neoplasms, Multiple Primary / etiology. Neoplasms, Radiation-Induced / etiology. Radiotherapy / adverse effects. Skin Neoplasms / etiology

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  • (PMID = 16462665.001).
  • [ISSN] 0755-4982
  • [Journal-full-title] Presse medicale (Paris, France : 1983)
  • [ISO-abbreviation] Presse Med
  • [Language] fre
  • [Publication-type] Case Reports; Comparative Study; English Abstract; Journal Article
  • [Publication-country] France
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81. Cobourne MT, Xavier GM, Depew M, Hagan L, Sealby J, Webster Z, Sharpe PT: Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome. Dev Biol; 2009 Jul 01;331(1):38-49
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  • [Title] Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome.
  • Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant or spontaneous disorder characterized by multiple cutaneous basal cell carcinomas, odontogenic keratocysts, skeletal anomalies and facial dysmorphology, including cleft lip and palate.
  • We have investigated the molecular basis of craniofacial defects seen in NBCCS using a transgenic mouse model expressing Shh in basal epithelium under a Keratin-14 promoter.
  • Significantly, increased Hedgehog signal transduction in these mice can influence cell fate within the craniofacial region.
  • In contrast, high levels of Shh in odontogenic epithelium arrests tooth development at the bud stage, secondary to a lack of cell proliferation in this region.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Hedgehog Proteins / genetics. Tooth / growth & development
  • [MeSH-minor] Abnormalities, Multiple / genetics. Animals. Cell Death. Cell Division. Chromosome Mapping. Chromosomes, Human, Pair 9. Cleft Palate / genetics. DNA Primers. Disease Models, Animal. Humans. In Situ Hybridization. Keratin-14 / genetics. Medulloblastoma / pathology. Mice. Mice, Transgenic. Promoter Regions, Genetic

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  • (PMID = 19394325.001).
  • [ISSN] 1095-564X
  • [Journal-full-title] Developmental biology
  • [ISO-abbreviation] Dev. Biol.
  • [Language] eng
  • [Grant] United Kingdom / Medical Research Council / / G0200709; United Kingdom / Wellcome Trust / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers; 0 / Hedgehog Proteins; 0 / Keratin-14; 0 / SHH protein, human; 0 / Shh protein, mouse
  • [Other-IDs] NLM/ PMC2696601
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82. Schütt F, Staff C, Stein T, Hartschuh W, Dithmar S: [Photodynamic therapy of lid basal cell carcinomas in a 13-year-old patient with Gorlin Goltz syndrome]. Klin Monbl Augenheilkd; 2007 Aug;224(8):670-3
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  • [Title] [Photodynamic therapy of lid basal cell carcinomas in a 13-year-old patient with Gorlin Goltz syndrome].
  • BACKGROUND: Gorlin Goltz syndrome is a rare, autosomal dominant inherited disease that is characterised by multiple basal cell carcinomas (BCC) including the periorbital region and eye lids.
  • PATIENT: A 13-year-old boy with Gorlin Goltz syndrome presented with multiple confluent BCC on both eye lids and the skin of neck and trunk.
  • [MeSH-major] Basal Cell Nevus Syndrome / drug therapy. Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / drug therapy. Carcinoma, Basal Cell / pathology. Eyelid Neoplasms / drug therapy. Eyelid Neoplasms / pathology. Photochemotherapy / methods

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  • (PMID = 17717785.001).
  • [ISSN] 0023-2165
  • [Journal-full-title] Klinische Monatsblätter für Augenheilkunde
  • [ISO-abbreviation] Klin Monbl Augenheilkd
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
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83. Wang W, Wang J, Li J, Mao L, Guo F, Zhang B: New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome. Br J Oral Maxillofac Surg; 2009 Jul;47(5):366-9

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome.
  • Naevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant mode characterised by a combination of developmental anomalies and a predisposition to form tumours.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Mutation / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 19008023.001).
  • [ISSN] 1532-1940
  • [Journal-full-title] The British journal of oral & maxillofacial surgery
  • [ISO-abbreviation] Br J Oral Maxillofac Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Scotland
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Receptors, Cell Surface; 0 / Tumor Suppressor Proteins; 0 / patched receptors; 8J337D1HZY / Cytosine; JAC85A2161 / Adenine; QR26YLT7LT / Thymine
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84. Arad S, Zattra E, Hebert J, Epstein EH Jr, Goukassian DA, Gilchrest BA: Topical thymidine dinucleotide treatment reduces development of ultraviolet-induced basal cell carcinoma in Ptch-1+/- mice. Am J Pathol; 2008 May;172(5):1248-55
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  • [Title] Topical thymidine dinucleotide treatment reduces development of ultraviolet-induced basal cell carcinoma in Ptch-1+/- mice.
  • Treatment with thymidine dinucleotide (pTT) has well documented DNA-protective effects and reduces development of squamous cell carcinoma in UV-irradiated mice.
  • The preventive effect of pTT on basal cell carcinoma (BCC) was evaluated in UV-irradiated Ptch-1(+/-) mice, a model of the human disease Gorlin syndrome.

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  • (PMID = 18403589.001).
  • [ISSN] 1525-2191
  • [Journal-full-title] The American journal of pathology
  • [ISO-abbreviation] Am. J. Pathol.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA 10515; United States / NCI NIH HHS / CA / R01 CA109584; United States / NIAMS NIH HHS / AR / AR 050440; United States / NIAMS NIH HHS / AR / P01 AR050440; United States / NCI NIH HHS / CA / CA 109584
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anticarcinogenic Agents; 0 / Pyrimidine Dimers; 0 / Receptors, Cell Surface; 0 / Thymine Nucleotides; 0 / patched receptors; 88847-89-6 / 8-oxo-7-hydrodeoxyguanosine; G9481N71RO / Deoxyguanosine
  • [Other-IDs] NLM/ PMC2329834
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85. Zemtsov A: Association between basal, squamous cell carcinomas, dysplastic nevi and myotonic muscular dystrophy indicates an important role of RNA-binding proteins in development of human skin cancer. Arch Dermatol Res; 2010 Apr;302(3):169-70
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Association between basal, squamous cell carcinomas, dysplastic nevi and myotonic muscular dystrophy indicates an important role of RNA-binding proteins in development of human skin cancer.
  • A case of a patient, with MMD multiple basal and squamous cell carcinomas and dysplastic nevi, is described.
  • [MeSH-major] Carcinoma, Basal Cell / genetics. Carcinoma, Squamous Cell / genetics. Cell Transformation, Neoplastic / genetics. Dysplastic Nevus Syndrome / genetics. Myotonic Dystrophy / genetics. RNA-Binding Proteins / genetics. Skin Neoplasms / genetics

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  • (PMID = 19902230.001).
  • [ISSN] 1432-069X
  • [Journal-full-title] Archives of dermatological research
  • [ISO-abbreviation] Arch. Dermatol. Res.
  • [Language] eng
  • [Publication-type] Case Reports; News
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / RNA-Binding Proteins
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86. Martínez-Menchón T, Mahiques Santos L, Vilata Corell JJ, Febrer Bosch I, Fortea Baixauli JM: Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. Pediatr Dermatol; 2005 Jan-Feb;22(1):44-7
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  • [Title] Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components.
  • Phacomatosis pigmentokeratotica is a rare syndrome defined by the association of an organoid nevus occasionally with sebaceous differentiation, a speckled lentiginous nevus, and other extracutaneous anomalies.
  • We describe the first occurrence involving malignant degeneration of both nevus components, giving rise to three basal cell carcinomas over the sebaceous nevus and a malignant melanoma of the superficial spreading type over the speckled lentiginous nevus.
  • [MeSH-major] Carcinoma, Basal Cell / physiopathology. Neurocutaneous Syndromes / physiopathology. Nevus, Pigmented / physiopathology. Skin Neoplasms / physiopathology
  • [MeSH-minor] Adult. Cell Transformation, Neoplastic. Disease Progression. Follow-Up Studies. Humans. Male. Melanoma / complications. Melanoma / physiopathology

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  • (PMID = 15660897.001).
  • [ISSN] 0736-8046
  • [Journal-full-title] Pediatric dermatology
  • [ISO-abbreviation] Pediatr Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 19
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87. King R, Page RN, Googe PB, Mihm MC Jr: Lentiginous melanoma: a histologic pattern of melanoma to be distinguished from lentiginous nevus. Mod Pathol; 2005 Oct;18(10):1397-401
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Lentiginous melanoma: a histologic pattern of melanoma to be distinguished from lentiginous nevus.
  • Atypical lentiginous melanocytic proliferations in elderly patients continue to pose a diagnostic dilemma with lesions variably categorized as dysplastic nevus, atypical junctional nevus, melanoma in situ (early or evolving) and premalignant melanosis.
  • The clinical diagnosis was variable and included lentigo maligna, atypical nevus, pigmented basal cell carcinoma, seborrheic keratosis and lentigo.
  • The initial biopsies mimicked lentiginous nevus or dysplastic nevus and were characterized by a lentiginous proliferation of melanocytes at the dermoepidermal junction both as single cells and as small nests with areas of confluent growth, extending to the edges of the biopsy.
  • [MeSH-major] Dysplastic Nevus Syndrome / diagnosis. Hutchinson's Melanotic Freckle / diagnosis. Lentigo / diagnosis. Melanoma / diagnosis. Nevus, Pigmented / diagnosis. Skin Neoplasms / diagnosis
  • [MeSH-minor] Adult. Aged. Aged, 80 and over. Carcinoma, Basal Cell / diagnosis. Carcinoma, Basal Cell / pathology. Diagnosis, Differential. Female. Humans. Immunohistochemistry. Male. Middle Aged

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  • (PMID = 15976811.001).
  • [ISSN] 0893-3952
  • [Journal-full-title] Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
  • [ISO-abbreviation] Mod. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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88. Kansal A, Brueton L, Lahiri A, Lester R: Hypoplastic thumb in Gorlin's syndrome. J Plast Reconstr Aesthet Surg; 2007;60(4):440-2

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hypoplastic thumb in Gorlin's syndrome.
  • Gorlin's syndrome or naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and medulloblastomas.
  • Gorlin's syndrome is characterized by the development of multiple jaw keratocysts and/or basal carcinomas.
  • Various hand deformities have been reported in patients with Gorlin's syndrome including short metacarpals, cutaneous syndactyly of the second and third fingers, and pre- or post-axial polydactyly, but hypoplasia of the thumb has not been reported previously.
  • These features of Gorlin's syndrome may be helpful diagnostically.
  • The thumbs should be examined carefully in Gorlin's syndrome patients as minor degrees of hypoplasia are easy to miss.
  • [MeSH-major] Basal Cell Nevus Syndrome. Thumb / abnormalities

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  • (PMID = 17349603.001).
  • [ISSN] 1748-6815
  • [Journal-full-title] Journal of plastic, reconstructive & aesthetic surgery : JPRAS
  • [ISO-abbreviation] J Plast Reconstr Aesthet Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
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89. Mateus GC, Lanza GH, de Moura PH, Marigo Hde A, Horta MC: Cell proliferation and apoptosis in keratocystic odontogenic tumors. Med Oral Patol Oral Cir Bucal; 2008 Nov;13(11):E697-702
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  • [Title] Cell proliferation and apoptosis in keratocystic odontogenic tumors.
  • Therefore, the aim of this study is to evaluate and compare the proliferation index (PI) and the apoptotic index (AI) of the epithelial lining in sporadic KOTs, KOTs associated with the Nevoid Basal Cell Carcinoma Syndrome (NBCCS KOTs), and dentigerous cysts.
  • The PI was assessed by immunohistochemical detection of the cell proliferation marker Ki-67.
  • In dentigerous cysts, the PI was higher in the basal layer.
  • No difference in the AI was observed between the basal layer and the suprabasal layer in the three lesions.
  • CONCLUSIONS: The present study demonstrates that the epithelial lining of KOTs shows a distinct pattern of cell proliferation and apoptosis, reflecting its high cell turnover and reinforcing its classification as an odontogenic tumor.
  • [MeSH-major] Apoptosis. Basal Cell Nevus Syndrome / pathology. Cell Proliferation. Mouth Neoplasms / pathology. Odontogenic Tumors / pathology

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  • (PMID = 18978709.001).
  • [ISSN] 1698-6946
  • [Journal-full-title] Medicina oral, patología oral y cirugía bucal
  • [ISO-abbreviation] Med Oral Patol Oral Cir Bucal
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Spain
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90. Ahmed N, Salman M, Mansoor MA: Gorlin-goltz syndrome. J Coll Physicians Surg Pak; 2007 Sep;17(9):568-9

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin-goltz syndrome.
  • Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome.
  • Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system.
  • In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts.

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  • (PMID = 17903410.001).
  • [ISSN] 1022-386X
  • [Journal-full-title] Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
  • [ISO-abbreviation] J Coll Physicians Surg Pak
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Pakistan
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91. Pan S, Li TJ: PTCH1 mutations in odontogenic keratocysts: are they related to epithelial cell proliferation? Oral Oncol; 2009 Oct;45(10):861-5

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] PTCH1 mutations in odontogenic keratocysts: are they related to epithelial cell proliferation?
  • Mutations in PTCH1 gene are responsible for majority of nevoid basal cell carcinoma syndrome (NBCCS) as well as for some related sporadic neoplasms.
  • Mutations of PTCH1 would lead to constitutive activation of Sonic hedgehog (SHH) signaling pathway and result in aberrant cell proliferation.
  • The epithelial cell proliferation as assessed by Ki67 labeling was studied in a total cohort of 62 OKCs (42 sporadic and 20 syndromic cases) with known PTCH1 status.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Odontogenic Cysts / genetics. Receptors, Cell Surface / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Cell Proliferation. Child. DNA Mutational Analysis. Epithelial Cells / metabolism. Female. Humans. Male. Middle Aged. Young Adult

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  • (PMID = 19362041.001).
  • [ISSN] 1879-0593
  • [Journal-full-title] Oral oncology
  • [ISO-abbreviation] Oral Oncol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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92. Findley AB, Pride H: Unusual cystic scalp lesions in Gorlin syndrome: a brief report. Pediatr Dermatol; 2010 Mar-Apr;27(2):204-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Unusual cystic scalp lesions in Gorlin syndrome: a brief report.
  • Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare, autosomal dominant syndrome that is known to have variable expressivity in multiple organ systems.
  • We describe the case of a young male child with nevoid basal cell carcinoma syndrome and scalp lesions, including a branchial cleft cyst with respiratory epithelium and a rudimentary meningocele.
  • These are both new, previously unreported findings, possibly associated with nevoid basal cell carcinoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Branchioma / diagnosis. Head and Neck Neoplasms / diagnosis. Scalp. Skin Neoplasms / diagnosis


93. Valin A, Barnay-Verdier S, Robert T, Ripoche H, Brellier F, Chevallier-Lagente O, Avril MF, Magnaldo T: PTCH1 +/- dermal fibroblasts isolated from healthy skin of Gorlin syndrome patients exhibit features of carcinoma associated fibroblasts. PLoS One; 2009;4(3):e4818
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] PTCH1 +/- dermal fibroblasts isolated from healthy skin of Gorlin syndrome patients exhibit features of carcinoma associated fibroblasts.
  • Gorlin's or nevoid basal cell carcinoma syndrome (NBCCS) causes predisposition to basal cell carcinoma (BCC), the commonest cancer in adult human.
  • Mutations in the tumor suppressor gene PTCH1 are responsible for this autosomal dominant syndrome.
  • As increasing evidence supports the idea that the stroma influences carcinoma development, we hypothesized that NBCCS fibroblasts could facilitate BCC occurence of the patients.
  • They also over-expressed mRNA of pro-proliferative diffusible factors such as fibroblast growth factor 7 and the stromal cell-derived factor 1 alpha, known for its expression in carcinoma associated fibroblasts.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Carcinoma, Basal Cell / pathology. Receptors, Cell Surface / genetics. Skin / pathology. Skin Neoplasms / pathology

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  • (PMID = 19287498.001).
  • [ISSN] 1932-6203
  • [Journal-full-title] PloS one
  • [ISO-abbreviation] PLoS ONE
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Cytokines; 0 / GREM1 protein, human; 0 / Intercellular Signaling Peptides and Proteins; 0 / RNA, Messenger; 0 / Receptors, Cell Surface; 0 / Wnt Proteins; 0 / beta Catenin; 0 / patched receptors; EC 3.4.24.- / Matrix Metalloproteinases
  • [Other-IDs] NLM/ PMC2654107
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94. Dos Santos JN, Oliveira GQ, Gurgel CA, de Souza RO, Sales CB, de Aguiar Pires Valença Neto A, Ramos EA: Altered expression of cytokeratins in primary, recurrent and syndrome keratocystic odontogenic tumors. J Mol Histol; 2009 Aug;40(4):269-75
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  • [Title] Altered expression of cytokeratins in primary, recurrent and syndrome keratocystic odontogenic tumors.
  • Keratocystic odontogenic tumor (KOT) is a benign cystic tumor that affects the jaw bones and may be associated with the nevoid basal cell carcinoma syndrome (NBCCS).
  • CK14 was expressed in all epithelial layers and in those areas where inflammation and subepithelial splits were present; this protein was preserved within the basal cells.
  • CK 18 was expressed mainly in the basal layer, whereas CK19 was expressed mainly on the intermediate and superficial layers.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Jaw Neoplasms / pathology. Keratins / biosynthesis. Neoplasm Recurrence, Local / pathology. Odontogenic Cysts / pathology

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  • (PMID = 19915949.001).
  • [ISSN] 1567-2387
  • [Journal-full-title] Journal of molecular histology
  • [ISO-abbreviation] J. Mol. Histol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 68238-35-7 / Keratins
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95. Barcelos AC, Nico MM: Bazex-Dupré-Christol syndrome in a 1-year-old boy and his mother. Pediatr Dermatol; 2008 Jan-Feb;25(1):112-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Bazex-Dupré-Christol syndrome in a 1-year-old boy and his mother.
  • Bazex-Dupré-Christol syndrome is a rare genodermatosis with cancer predisposition, characterized by follicular atrophoderma, multiple milia, congenital hypotrichosis, hypohidrosis and basal cell malformations that include nevoid basal cell carcinomas of early onset.
  • We present two patients with this syndrome, a 1-year-old boy with diffuse scalp and eyebrows alopecia, milia papules on the face, ears, trunk, and limbs.
  • She also had a basal cell carcinoma on her face.
  • Pili bifurcatti is an uncommon hair shaft dysplasia that has not before been observed in Bazex-Dupré-Christol syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Carcinoma, Basal Cell / pathology. Heterozygote. Precancerous Conditions / pathology. Skin Neoplasms / genetics
  • [MeSH-minor] Acrodermatitis / diagnosis. Acrodermatitis / genetics. Adolescent. Cell Transformation, Neoplastic. Female. Humans. Hypohidrosis / diagnosis. Hypohidrosis / genetics. Hypotrichosis / diagnosis. Hypotrichosis / genetics. Infant. Male. Mothers. Pedigree. Prognosis. Syndrome

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  • (PMID = 18304168.001).
  • [ISSN] 1525-1470
  • [Journal-full-title] Pediatric dermatology
  • [ISO-abbreviation] Pediatr Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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96. Safronova MM, Arantes M, Lima I, Domingues S, Almeida M, Moniz P: [Gorlin-Goltz syndrome: review of the neuroradiological and maxillofacial features illustrated with two clinical cases]. Acta Med Port; 2010 Nov-Dec;23(6):1119-26
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Gorlin-Goltz syndrome: review of the neuroradiological and maxillofacial features illustrated with two clinical cases].
  • [Transliterated title] Síndrome de Gorlin-Goltz: revisão das características neurorradiológicas e maxilofaciais ilustradas com dois casos.
  • INTRODUCTION: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary autosomal-dominant disorder characterized by multiple basal cell carcinomas in young patients, odontogenic keratocysts, palmar or plantar pits, calcification of the falx cerebri and skeletal malformations.
  • This syndrome is due to mutations in PTCH1 (patched homolog 1 da Drosophila), a tumor suppressor gene.
  • The authors review in particular the neuroradiological and maxillofacial characteristics of the syndrome.
  • CASE REPORT: The authors describe the clinical presentation of two children with Gorlin-Goltz syndrome without affected first degree relatives.
  • In both the clinical suspicion of the syndrome is raised by the presence of multiple odontogenic cysts surgically removed.
  • None of the patients has basal cell carcinomas but both present with skeletal anomalies, namely marked pectus deformity.
  • DISCUSSION/CONCLUSION: The absence of major diagnostic criteria like basal cell carcinomas or palmar or plantar pits in young patients delay the early diagnosis and the correct screening for medulloblastoma, basal cell carcinomas and cardiac fibromas.
  • Odontogenic keratocysts are the most consistent clinical finding in Gorlin-Goltz syndrome in the first one or two decades of life.
  • These patients are very sensitive to ionizing radiation, being able to develop basal cell carcinomas and meningiomas.
  • [MeSH-major] Basal Cell Nevus Syndrome / radiography. Brain Neoplasms / radiography. Maxillary Neoplasms / radiography

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  • (PMID = 21627888.001).
  • [ISSN] 1646-0758
  • [Journal-full-title] Acta médica portuguesa
  • [ISO-abbreviation] Acta Med Port
  • [Language] por
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Portugal
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97. Geneviève D, Walter E, Gorry P, Jacquemont ML, Dupic L, Layet V, Munnich A, Cormier-Daire V, Dommergues M, Lyonnet S, Mitanchez D: Gorlin syndrome presenting as prenatal chylothorax in a girl. Prenat Diagn; 2005 Nov;25(11):997-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gorlin syndrome presenting as prenatal chylothorax in a girl.
  • Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant condition with an estimated prevalence of 1:57 000.
  • The main features observed in patients with GS are basal cell carcinomas, odontogenic keratocysts, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar epidermal cysts, facial dysmorphism, and cerebral falx calcification.
  • [MeSH-major] Basal Cell Nevus Syndrome / diagnosis. Chylothorax / etiology. Prenatal Diagnosis

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  • [Copyright] Copyright 2005 John Wiley & Sons, Ltd.
  • (PMID = 16231297.001).
  • [ISSN] 0197-3851
  • [Journal-full-title] Prenatal diagnosis
  • [ISO-abbreviation] Prenat. Diagn.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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98. Laimer M, Onder K, Schlager P, Lanschuetzer CM, Emberger M, Selhofer S, Hintner H, Bauer JW: Nonsense-associated altered splicing of the Patched gene fails to suppress carcinogenesis in Gorlin syndrome. Br J Dermatol; 2008 Jul;159(1):222-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nonsense-associated altered splicing of the Patched gene fails to suppress carcinogenesis in Gorlin syndrome.
  • Mutations in the gene coding for the transmembrane receptor protein Patched (PTCH) are implicated in the autosomal dominant disorder Gorlin syndrome (also known as naevoid basal cell carcinoma syndrome), characterized by congenital abnormalities and cancer predisposition.
  • We describe a patient with Gorlin syndrome who had three molecular aberrations resulting in biallelic disruption of the PTCH gene, leading to abnormal protein expression and development of basal cell carcinoma.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Codon, Nonsense / genetics. Precancerous Conditions / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 18476955.001).
  • [ISSN] 1365-2133
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / DNA, Neoplasm; 0 / Hedgehog Proteins; 0 / Membrane Proteins; 0 / Receptor, Melanocortin, Type 1; 0 / Receptors, Cell Surface; 0 / patched receptors
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99. Gu XM, Zhao HS, Sun LS, Li TJ: PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts. J Dent Res; 2006 Sep;85(9):859-63
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts.
  • Odontogenic keratocysts are relatively common lesions that may occur in isolation or in association with nevoid basal cell carcinoma syndrome (or Gorlin syndrome).
  • The PTCH gene has been reported to be associated with Gorlin syndrome.
  • We investigated 10 cases of non-syndromic keratocysts and two other cases associated with Gorlin syndrome, looking for PTCH mutations.
  • Of the 5 mutations identified, 2 were germ-line mutations (2619C>A; 1338_1339insGCG) in 2 cysts associated with Gorlin syndrome, and 3 were somatic mutations (3124_3129dupGTGTGC; 1361_1364delGTCT; 3913G>T) in 3 non-syndromic cysts.
  • This report describes PTCH mutations in both non-syndromic and Gorlin-syndrome-related odontogenic keratocysts in Chinese patients, and suggests that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic keratocysts.
  • [MeSH-major] Basal Cell Nevus Syndrome / genetics. Odontogenic Cysts / genetics. Receptors, Cell Surface / genetics

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  • (PMID = 16931872.001).
  • [ISSN] 0022-0345
  • [Journal-full-title] Journal of dental research
  • [ISO-abbreviation] J. Dent. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / PTCH protein, human; 0 / Patched Receptors; 0 / Patched-1 Receptor; 0 / Receptors, Cell Surface; 68238-35-7 / Keratins
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100. Brellier F, Valin A, Chevallier-Lagente O, Gorry P, Avril MF, Magnaldo T: Ultraviolet responses of Gorlin syndrome primary skin cells. Br J Dermatol; 2008 Aug;159(2):445-52
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Ultraviolet responses of Gorlin syndrome primary skin cells.
  • BACKGROUND: Gorlin syndrome, or naevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant disorder associated with mutations in the PTCH1 gene, which encodes the receptor of SONIC HEDGEHOG.
  • In addition to developmental abnormalities, patients with NBCCS are prone to basal cell carcinoma (BCC), the most frequent type of nonmelanoma skin cancer in humans.
  • DNA repair and cell survival analyses following UV irradiation revealed no obvious differences between responses of NBCCS and WT fibroblasts and keratinocytes.
  • CONCLUSIONS: Our observations that NBCCS cells harbour normal DNA repair and survival capacities following UV irradiation better explain that BCC proneness of patients with NBCCS does not solely concern body areas exposed to sunlight and suggest rather that it might be due to cell cycle alterations.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Skin / cytology. Skin Neoplasms / pathology. Ultraviolet Rays
  • [MeSH-minor] Cell Survival / radiation effects. Cells, Cultured. DNA Repair. DNA, Neoplasm / genetics. Dose-Response Relationship, Radiation. Fibroblasts / radiation effects. Humans. Keratinocytes / radiation effects. Mutation. Receptors, Cell Surface / genetics. Tumor Suppressor Protein p53 / metabolism

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  • (PMID = 18510667.001).
  • [ISSN] 1365-2133
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / Receptors, Cell Surface; 0 / Tumor Suppressor Protein p53; 0 / patched receptors
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