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Items 1 to 26 of about 26
1. Go JW, Oh HE, Cho HK, Kang WH, Ro BI: A case of basaloid follicular hamartoma. Ann Dermatol; 2010 May;22(2):229-31

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A case of basaloid follicular hamartoma.
  • Basaloid follicular hamartoma (BFH), uncommon rare benign neoplasm connected to the adnexal structures, presents with multiple clinical manifestations that can develop into basal cell carcinoma.
  • BFH shows thick cords and thin strands of anastomosing basaloid proliferations that arise from hair follicles and are enclosed by loose fibrous stroma.

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  • (PMID = 20548923.001).
  • [ISSN] 2005-3894
  • [Journal-full-title] Annals of dermatology
  • [ISO-abbreviation] Ann Dermatol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Korea (South)
  • [Other-IDs] NLM/ PMC2883435
  • [Keywords] NOTNLM ; Basaloid follicular hamartoma
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2. Hellani A, Baghdadi H, Dabbour N, Almassri N, Abu-Amero KK: A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report. J Med Case Rep; 2009;3:52

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report.
  • INTRODUCTION: Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts of the jaws and developmental defects.
  • The disorder results from mutations in the PTCH1 gene.
  • Examination of the jaw cysts revealed many keratinizing cysts without granular cell layers a finding that raised the suspicion of nevoid basal cell carcinoma.
  • Histopathological examination showed basaloid proliferation in the upper dermis with follicular differentiation surrounded by a loose mucinous stroma and retraction artifacts.
  • These features make it difficult to differentiate between nevoid basal cell carcinoma and basaloid follicular hamartoma, especially the presence of these findings on a non-hairy area.
  • BCL-2 staining was positive in the periphery of the basaloid proliferation, which is typical of basaloid follicular hamartoma, and not in a diffuse pattern, which is typical of nevoid basal cell carcinoma.
  • Since histology was equivocal and palmoplantar pits are seen in both basaloid follicular hamartoma and nevoid basal cell carcinoma, molecular genetic investigation was necessary to differentiate between the two potential diagnoses.
  • This de novo mutation was not detected in both parents and in 100 normal volunteers of matching ethnicity.
  • CONCLUSION: Screening the PTCH1 gene for mutations helped to differentiate between basaloid follicular hamartoma and nevoid basal cell carcinoma and confirmed the diagnosis.

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  • [Journal-full-title] Journal of medical case reports
  • [ISO-abbreviation] J Med Case Rep
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2642855
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3. Lee DA, Grossman ME, Schneiderman P, Celebi JT: Genetics of skin appendage neoplasms and related syndromes. J Med Genet; 2005 Nov;42(11):811-9
NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt-Hogg-Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke-Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir-Torre syndrome.

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  • (PMID = 16272260.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] ENG
  • [Grant] United States / NIAMS NIH HHS / AR / K08 AR050273
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review
  • [Publication-country] England
  • [Number-of-references] 95
  • [Other-IDs] NLM/ PMC1735949
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4. Depianto D, Kerns ML, Dlugosz AA, Coulombe PA: Keratin 17 promotes epithelial proliferation and tumor growth by polarizing the immune response in skin. Nat Genet; 2010 Oct;42(10):910-4
SciCrunch. OMIM: Data: Gene Annotation .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Basaloid skin tumors, including basal cell carcinoma (BCC) and basaloid follicular hamartoma, are associated with aberrant Hedgehog (Hh) signaling and, in the case of BCC, an expanding set of genetic variants including keratin 5 (encoded by KRT5), an intermediate filament-forming protein.
  • We here show that genetic ablation of keratin 17 (Krt17) protein, which is induced in basaloid skin tumors and co-polymerizes with Krt5 in vivo, delays basaloid follicular hamartoma tumor initiation and growth in mice with constitutive Hh signaling in epidermis.
  • Our findings establish an immunomodulatory role for Krt17 in Hh driven basaloid skin tumors that could impact additional tumor settings, psoriasis and wound repair.

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  • (PMID = 20871598.001).
  • [ISSN] 1546-1718
  • [Journal-full-title] Nature genetics
  • [ISO-abbreviation] Nat. Genet.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA160255; United States / NIAMS NIH HHS / AR / R01 AR044232-14; United States / NCI NIH HHS / CA / CA123530-02; United States / NCI NIH HHS / CA / R21 CA123530; United States / NCI NIH HHS / CA / T32 CA009110; United States / NCI NIH HHS / CA / CA123530; United States / NIAMS NIH HHS / AR / AR44232; United States / NCI NIH HHS / CA / R21 CA123530-02; United States / NCI NIH HHS / CA / F32 CA110618; United States / NIAMS NIH HHS / AR / R01 AR044232; United States / NCI NIH HHS / CA / R01 CA087837; United States / NCI NIH HHS / CA / CA087837; United States / NIAMS NIH HHS / AR / AR044232-14
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Gli2 protein; 0 / Hedgehog Proteins; 0 / KRT1-17 protein, mouse; 0 / Kruppel-Like Transcription Factors; 0 / RNA, Messenger; 68238-35-7 / Keratins
  • [Other-IDs] NLM/ NIHMS231459; NLM/ PMC2947596
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5. Patel AB, Harting MS, Smith-Zagone MJ, Hsu S: Familial basaloid follicular hamartoma: a report of one family. Dermatol Online J; 2008;14(4):14
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] Familial basaloid follicular hamartoma: a report of one family.
  • Basaloid follicular hamartoma is a rare but benign adnexal neoplasm that can simulate basal cell carcinoma.
  • Criteria for distinction between the hamartoma and carcinoma are delineated, although evolution of basaloid follicular hamartoma into basal cell carcinoma may also be a possibility.
  • [MeSH-major] Hamartoma / diagnosis. Neoplasms, Basal Cell / diagnosis. Skin Neoplasms / diagnosis
  • [MeSH-minor] Adolescent. Adult. Diagnosis, Differential. Female. Humans. Male. Receptors, Cell Surface / genetics. Skin / pathology

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  • (PMID = 18627736.001).
  • [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
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
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6. Lee PL, Lourduraj LT, Palko MJ 3rd, Jukic DM, English JC 3rd: Hereditary basaloid follicular hamartoma syndrome. Cutis; 2006 Jul;78(1):42-6
MedlinePlus Health Information. consumer health - Skin Conditions.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hereditary basaloid follicular hamartoma syndrome.
  • Basaloid follicular hamartoma syndrome (BFHS) is a rare adnexal tumor genodermatosis.
  • [MeSH-major] Carcinoma, Basal Cell / diagnosis. Facial Dermatoses / diagnosis. Hamartoma / diagnosis. Hand Dermatoses / diagnosis. Skin Diseases / diagnosis. Skin Neoplasms / diagnosis

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  • [CommentIn] Cutis. 2007 Feb;79(2):154; author reply 155-6 [17388219.001]
  • (PMID = 16903320.001).
  • [ISSN] 0011-4162
  • [Journal-full-title] Cutis
  • [ISO-abbreviation] Cutis
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 14
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7. Ackerman AB: Nevoid basal cell carcinoma syndrome versus generalized basaloid follicular hamartoma syndrome. J Cutan Pathol; 2009 May;36(5):603; author reply 604
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] Nevoid basal cell carcinoma syndrome versus generalized basaloid follicular hamartoma syndrome.
  • [MeSH-major] Basal Cell Nevus Syndrome / pathology. Hamartoma Syndrome, Multiple / pathology. Skin Neoplasms / pathology


8. Yang SH, Andl T, Grachtchouk V, Wang A, Liu J, Syu LJ, Ferris J, Wang TS, Glick AB, Millar SE, Dlugosz AA: Pathological responses to oncogenic Hedgehog signaling in skin are dependent on canonical Wnt/beta3-catenin signaling. Nat Genet; 2008 Sep;40(9):1130-5
The Lens. Cited by Patents in .

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  • Constitutive Hedgehog (Hh) signaling underlies several human tumors, including basal cell carcinoma (BCC) and basaloid follicular hamartoma in skin.
  • Intriguingly, superficial BCCs arise as de novo epithelial buds resembling embryonic hair germs, collections of epidermal cells whose development is regulated by canonical Wnt/beta-catenin signaling.
  • Conditional overexpression of the Wnt pathway antagonist Dkk1 in M2SMO-expressing mice potently inhibited epithelial bud and hamartoma development without affecting Hh signaling.

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  • [CommentIn] Nat Genet. 2008 Sep;40(9):1040-1 [19165916.001]
  • (PMID = 19165927.001).
  • [ISSN] 1061-4036
  • [Journal-full-title] Nature genetics
  • [ISO-abbreviation] Nat. Genet.
  • [Language] ENG
  • [Grant] United States / NIAMS NIH HHS / AR / R01-AR47709; United States / NIAMS NIH HHS / AR / AR045973-09; United States / NIDCR NIH HHS / DE / R01 DE015342-01A2; United States / NCI NIH HHS / CA / R01 CA087837-01; United States / NCI NIH HHS / CA / CA087837-09; United States / NIAMS NIH HHS / AR / R01 AR047709-01; United States / NIDCR NIH HHS / DE / DE015342-01A2; United States / NCI NIH HHS / CA / P30-CA46592; United States / NIGMS NIH HHS / GM / GM007863-19; United States / NCI NIH HHS / CA / P30 CA046592; United States / NICHD NIH HHS / HD / T32 HD007505-02; United States / NICHD NIH HHS / HD / HD007505-02; United States / NCI NIH HHS / CA / R01 CA087837-09; United States / NIGMS NIH HHS / GM / T32 GM007863-19; United States / NIAMS NIH HHS / AR / R01 AR045973-09; United States / NCI NIH HHS / CA / P30 CA046592-109015; United States / NIGMS NIH HHS / GM / T32-GM07863; United States / NIAMS NIH HHS / AR / R01 AR047709; United States / NICHD NIH HHS / HD / T32 HD007505; United States / NIAMS NIH HHS / AR / R01-AR45973; United States / NIGMS NIH HHS / GM / T32 GM007863; United States / NIDCR NIH HHS / DE / R01-DE015342; United States / NIAMS NIH HHS / AR / AR047709-01; United States / NCI NIH HHS / CA / CA046592-109015; United States / NIAMS NIH HHS / AR / R01 AR045973; United States / NIAMS NIH HHS / AR / AR045973-01A1; United States / NCI NIH HHS / CA / R01 CA087837; United States / NICHD NIH HHS / HD / T32-HD007505; United States / NIAMS NIH HHS / AR / R01 AR045973-01A1; United States / NCI NIH HHS / CA / R01-CA87837; United States / NIDCR NIH HHS / DE / R01 DE015342
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Hedgehog Proteins; 0 / Oncogene Proteins; 0 / Wnt Proteins; 0 / beta Catenin
  • [Other-IDs] NLM/ NIHMS91012; NLM/ PMC2688690
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9. Saxena A, Shapiro M, Kasper DA, Fitzpatrick JE, Mellette JR Jr: Basaloid follicular hamartoma: a cautionary tale and review of the literature. Dermatol Surg; 2007 Sep;33(9):1130-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Basaloid follicular hamartoma: a cautionary tale and review of the literature.
  • [MeSH-major] Hamartoma / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Adult. Carcinoma, Basal Cell / pathology. Dermabrasion. Diagnosis, Differential. Female. Hair Follicle / pathology. Humans. Mohs Surgery. Skin Transplantation

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  • (PMID = 17760608.001).
  • [ISSN] 1076-0512
  • [Journal-full-title] Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
  • [ISO-abbreviation] Dermatol Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 38
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10. Mills O, Thomas LB: Basaloid follicular hamartoma. Arch Pathol Lab Med; 2010 Aug;134(8):1215-9
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  • [Title] Basaloid follicular hamartoma.
  • Basaloid follicular hamartoma is a benign lesion of important consideration because it can be mistaken both clinically and histologically for basal cell carcinoma.
  • The formation of basaloid follicular hamartoma has been linked to a mutation in the patched gene, which is part of the same pathway implicated in nevoid basal cell carcinoma syndrome.
  • While these hamartomas are considered benign lesions, malignant growths have been reported to arise within them, which raises the question, "Is basaloid follicular hamartoma a premalignant lesion?
  • [MeSH-major] Hair Diseases / diagnosis. Hair Follicle / pathology. Hamartoma / diagnosis
  • [MeSH-minor] Carcinoma, Basal Cell / diagnosis. Diagnosis, Differential. Humans. Mutation. Receptors, Cell Surface / genetics. Skin Neoplasms / diagnosis

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  • (PMID = 20670146.001).
  • [ISSN] 1543-2165
  • [Journal-full-title] Archives of pathology & laboratory medicine
  • [ISO-abbreviation] Arch. Pathol. Lab. Med.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Cell Surface; 0 / patched receptors
  • [Number-of-references] 23
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11. El-Darouti MA, Marzouk SA, Abdel-Halim MR, Zidan AZ, Fawzy MM: Basaloid follicular hamartoma. Int J Dermatol; 2005 May;44(5):361-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Basaloid follicular hamartoma.
  • Basaloid follicular hamartoma (BFH) is a unique benign follicular hamartoma characterized by variable clinical presentations, identical histologic features and possible associations with numerous disorders.
  • Basaloid follicular hamartoma may be hereditary or acquired.
  • [MeSH-major] Hair Diseases / pathology. Hair Follicle / pathology. Hamartoma / pathology

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  • (PMID = 15869532.001).
  • [ISSN] 0011-9059
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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12. Ramos-Ceballos FI, Pashaei S, Kincannon JM, Morgan MB, Smoller BR: Bcl-2, CD34 and CD10 expression in basaloid follicular hamartoma, vellus hair hamartoma and neurofollicular hamartoma demonstrate full follicular differentiation. J Cutan Pathol; 2008 May;35(5):477-83
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Bcl-2, CD34 and CD10 expression in basaloid follicular hamartoma, vellus hair hamartoma and neurofollicular hamartoma demonstrate full follicular differentiation.
  • Generalized basaloid follicular hamartoma syndrome (GBFHS) is a rare, recently-described, autosomal-dominantly inherited disorder that presents with disseminated milia, palmoplantar pitting, hypotrichosis and basaloid follicular hamartomas (BFH).
  • BFH is a benign adnexal tumor that resembles basal cell carcinoma (BCC).
  • In this study, we report two cases of GBFHS and stain BFH, a vellus hair hamartoma (VHH) and a neurofollicular hamartoma (NH) with CD34, bcl-2 and CD10 to characterize and compare the staining patterns of these follicular tumors.
  • Bcl-2 stained the outermost cell layers of the basaloid nests in all specimens.
  • Bcl-2 stains the outermost cell layer of these tumors.
  • These results show the similarities in differentiation between these benign follicular neoplasms and trichoepithelioma.
  • [MeSH-major] Antigens, CD34 / metabolism. Hair Diseases / metabolism. Hamartoma Syndrome, Multiple / metabolism. Neprilysin / metabolism. Proto-Oncogene Proteins c-bcl-2 / metabolism

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  • [CommentIn] J Cutan Pathol. 2009 May;36(5):603; author reply 604 [19476535.001]
  • (PMID = 18399809.001).
  • [ISSN] 1600-0560
  • [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 / Antigens, CD34; 0 / Biomarkers; 0 / Proto-Oncogene Proteins c-bcl-2; EC 3.4.24.11 / Neprilysin
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13. Yang XC, Yan H, Hao F, Yie QY, Zhong BY: Congenital localized basaloid follicular hamartoma: a case report and review of the literature. Int J Dermatol; 2010 Apr;49(4):443-7
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  • [Title] Congenital localized basaloid follicular hamartoma: a case report and review of the literature.
  • [MeSH-major] Hamartoma / congenital. Skin Diseases / congenital

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  • (PMID = 20465704.001).
  • [ISSN] 1365-4632
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 16
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14. Kazakov DV, Vanecek T, Nemcova J, Kacerovska D, Spagnolo DV, Mukensnabl P, Michal M: Spectrum of tumors with follicular differentiation in a patient with the clinical phenotype of multiple familial trichoepitheliomas: a clinicopathological and molecular biological study, including analysis of the CYLD and PTCH genes. Am J Dermatopathol; 2009 Dec;31(8):819-27
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Spectrum of tumors with follicular differentiation in a patient with the clinical phenotype of multiple familial trichoepitheliomas: a clinicopathological and molecular biological study, including analysis of the CYLD and PTCH genes.
  • We report a patient with multiple trichoepitheliomas whose biopsy material also demonstrated a range of other neoplasms with follicular differentiation, including small nodular trichoblastoma, small nodular basal cell carcinoma (BCC), and areas resembling infundibulocystic BCC/basaloid follicular hamartoma.
  • The occurrence of multiple follicular neoplasms within a single lesion adds evidence that, although in most cases BCC and trichoblastoma are distinct lesions, the 2 neoplasms do encompass a morphological spectrum of follicular differentiation, which is probably more overtly expressed in syndromic patients.
  • [MeSH-major] Neoplasms, Adnexal and Skin Appendage / pathology. Neoplasms, Basal Cell / pathology. Neoplasms, Multiple Primary / pathology. Receptors, Cell Surface / genetics. Skin Neoplasms / pathology. Tumor Suppressor Proteins / genetics
  • [MeSH-minor] Adolescent. Adult. Cell Differentiation. Child. Female. Humans. Male. Pedigree. Phenotype

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  • (PMID = 19730223.001).
  • [ISSN] 1533-0311
  • [Journal-full-title] The American Journal of dermatopathology
  • [ISO-abbreviation] Am J Dermatopathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / CYLD protein, human; 0 / Receptors, Cell Surface; 0 / Tumor Suppressor Proteins; 0 / patched receptors
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15. Yébenes M, Toll A, Vélez M, Barranco C, Alonso-López NA, Gonzalez-Sarmiento R, Bellosillo B, Pujol RM: Linear unilateral hamartomatous basal cell naevus with glandular and follicular differentiation. Clin Exp Dermatol; 2008 Jul;33(4):429-32
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Linear unilateral hamartomatous basal cell naevus with glandular and follicular differentiation.
  • Mosaicisms are characterized by genetic or functional differences between > or = 2 cell lines in one person, derived from a single zygote.
  • Of the various clinical patterns of cutaneous mosaicism, linear lesions following Blaschko's lines are probably the most commonly encountered, Several cases of multiple basal cell carcinomas or basaloid hamartomatous lesions distributed in a segmentary distribution and following Blaschko's lines have been described.
  • The various terms of 'linear unilateral basal cell naevus with comedones', 'linear unilateral basaloid follicular hamartoma', 'linear unilateral basal cell naevus', and 'basal-cell and linear unilateral adnexal hamartoma' have been used to define this apparently heterogeneous group of disorders.
  • We report a 66-year-old woman with a linear unilateral lesion that appeared during puberty and that histologically showed an adnexal hamartomatous lesion with multiple superficial and nodular basal cell carcinomas.
  • Focal areas of glandular and follicular differentiation were also noted.
  • [MeSH-major] Carcinoma, Basal Cell / pathology. Hair Follicle / pathology. Hamartoma / pathology. Mosaicism. Skin Neoplasms / pathology

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  • (PMID = 18312461.001).
  • [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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16. 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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17. Ackerman AB: Hereditary basaloid follicular hamartoma syndrome. Cutis; 2007 Feb;79(2):154; author reply 155-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hereditary basaloid follicular hamartoma syndrome.
  • [MeSH-major] Hamartoma / diagnosis. Skin Neoplasms / diagnosis
  • [MeSH-minor] Carcinoma, Basal Cell / diagnosis. Diagnosis, Differential. Facial Dermatoses / diagnosis. Humans. Syndrome

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  • [CommentOn] Cutis. 2006 Jul;78(1):42-6 [16903320.001]
  • (PMID = 17388219.001).
  • [ISSN] 0011-4162
  • [Journal-full-title] Cutis
  • [ISO-abbreviation] Cutis
  • [Language] eng
  • [Publication-type] Comment; Letter
  • [Publication-country] United States
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18. Lee MW, Choi JH, Moon KC, Koh JK: Linear basaloid follicular hamartoma on the Blaschko's line of the face. Clin Exp Dermatol; 2005 Jan;30(1):30-4
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  • [Title] Linear basaloid follicular hamartoma on the Blaschko's line of the face.
  • We report a 5-year-old girl with localized basaloid follicular hamartoma.
  • [MeSH-major] Facial Dermatoses / pathology. Hamartoma / pathology

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  • (PMID = 15663498.001).
  • [ISSN] 0307-6938
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 18
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19. Itin PH: Happle-Tinschert syndrome. Segmentally arranged basaloid follicular hamartomas, linear atrophoderma with hypo- and hyperpigmentation, enamel defects, ipsilateral hypertrichosis, and skeletal and cerebral anomalies. Dermatology; 2009;218(3):221-5
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  • [Title] Happle-Tinschert syndrome. Segmentally arranged basaloid follicular hamartomas, linear atrophoderma with hypo- and hyperpigmentation, enamel defects, ipsilateral hypertrichosis, and skeletal and cerebral anomalies.
  • Recently, Happle and Tinschert [Acta Derm Venereol 2008;88:382-387] described the case of a multisystem birth defect with segmentally arranged basaloid follicular hamartomas associated with extracutaneous defects in the form of short leg, polydactyly and hypoplastic teeth.
  • Here, a further typical case is reported, and it is emphasized that this phenotype should no longer be categorized as 'basal cell nevus syndrome', and thus be confused with the nevoid basal cell carcinoma syndrome of Gorlin [Cancer 1965;18:89-104].
  • A 7-year-old boy had multiple whitish and some scattered brownish basaloid follicular hamartomas involving the right side of his body in a systematized pattern following the lines of Blaschko.
  • The molecular basis of the disorder remains to be elucidated.
  • [MeSH-major] Abnormalities, Multiple. Bone and Bones / abnormalities. Brain Neoplasms. Hamartoma / pathology. Medulloblastoma. Pigmentation Disorders / pathology. Skin Diseases / pathology. Tooth Abnormalities

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  • [Copyright] 2008 S. Karger AG, Basel
  • (PMID = 19005246.001).
  • [ISSN] 1421-9832
  • [Journal-full-title] Dermatology (Basel, Switzerland)
  • [ISO-abbreviation] Dermatology (Basel)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Switzerland
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20. Happle R, Tinschert S: Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome. Acta Derm Venereol; 2008;88(4):382-7
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  • [Title] Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome.
  • A 39-year-old man presented with multiple basaloid follicular hamartomas involving the right side of his body in a systematized pattern following Blaschko's lines.
  • The cutaneous lesions of this syndrome should not be called "basal cell naevus" as this will lead to continuing confusion with Gorlin syndrome.
  • The molecular basis of the disorder remains to be elucidated.
  • [MeSH-major] Hamartoma / congenital. Hamartoma / pathology. Leg Length Inequality / congenital. Mouth Abnormalities. Polydactyly. Skin Diseases / congenital. Skin Diseases / pathology. Tooth Abnormalities

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  • (PMID = 18709310.001).
  • [ISSN] 0001-5555
  • [Journal-full-title] Acta dermato-venereologica
  • [ISO-abbreviation] Acta Derm. Venereol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Sweden
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21. 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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22. Grynspan D, Meir K, Senger C, Ball NJ: Cutaneous changes in fibrous hamartoma of infancy. J Cutan Pathol; 2007 Jan;34(1):39-43
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cutaneous changes in fibrous hamartoma of infancy.
  • BACKGROUND: Fibrous hamartoma of infancy (FHI) is a fast growing soft tissue tumor that usually arises in the first 2 years of life.
  • One case showed epidermal basaloid follicular hyperplasia.
  • [MeSH-major] Hamartoma / pathology. Skin / pathology. Skin Diseases / pathology

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  • [CommentIn] J Cutan Pathol. 2008 May;35(5):508-9 [18399811.001]
  • (PMID = 17214853.001).
  • [ISSN] 0303-6987
  • [Journal-full-title] Journal of cutaneous pathology
  • [ISO-abbreviation] J. Cutan. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Denmark
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23. Pelivani N, Houriet C, Haneke E: Trichilemmal cyst nevus with a sebaceous nevus component. Dermatology; 2010;221(4):289-91
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Trichilemmal cyst nevus with a sebaceous nevus component.
  • A 23-year-old man with a typical trichilemmal cyst nevus is reported.
  • This recently described disorder is sufficiently characteristic to differentiate it from sebaceous nevus, nevus comedonicus, porokeratotic eccrine nevus, nevus corniculatus, follicular basaloid hamartoma, Munro's nevus and Gardner's syndrome.
  • [MeSH-major] Epidermal Cyst / diagnosis. Facial Neoplasms / diagnosis. Nevus / diagnosis. Skin Neoplasms / diagnosis. Sweat Gland Neoplasms / diagnosis

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  • [Copyright] Copyright © 2010 S. Karger AG, Basel.
  • (PMID = 20720396.001).
  • [ISSN] 1421-9832
  • [Journal-full-title] Dermatology (Basel, Switzerland)
  • [ISO-abbreviation] Dermatology (Basel)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Dermatologic Agents; EH28UP18IF / Isotretinoin
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24. González-Vela MC, Val-Bernal JF, Garcia-Alberdi E, González-López MA, Fernández-Llaca JH: Trichoadenoma associated with an intradermal melanocytic nevus: a combined malformation. Am J Dermatopathol; 2007 Feb;29(1):92-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Trichoadenoma associated with an intradermal melanocytic nevus: a combined malformation.
  • Melanocytic nevi have been associated with epidermal hyperplasia, adnexal hyperplasia with follicular and sebaceous differentiation, cysts, and tumors of epidermal or adnexal origin.
  • We report a combined cutaneous hamartoma in a 29-year-old woman that comprised a trichoadenoma within an intradermal melanocytic nevus.
  • Clinical diagnosis was a malignant transformation of a melanocytic nevus.
  • Histopathologically, multiple keratinous cysts together with solid islands or masses of eosinophilic epithelial cells were closely intermingled with the nevus cells.
  • Occasional nests of basaloid cells were present.
  • This combined hamartoma reported herein is important because growth of these lesions could be clinically misinterpreted as malignant transformation of a preexisting lesion.
  • [MeSH-major] Adenoma / pathology. Hamartoma / pathology. Nevus, Pigmented / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Adult. Cell Transformation, Neoplastic / pathology. Diagnosis, Differential. Epidermis / pathology. Female. Humans

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  • (PMID = 17284971.001).
  • [ISSN] 0193-1091
  • [Journal-full-title] The American Journal of dermatopathology
  • [ISO-abbreviation] Am J Dermatopathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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25. Kim J, Zambrano EV, McNiff JM: Congenital panfollicular nevus associated with polydactyly. J Cutan Pathol; 2007 Dec;34 Suppl 1:14-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Congenital panfollicular nevus associated with polydactyly.
  • She also had several asymptomatic pink-tan cutaneous papules, involving the first and second ray of the left hand and wrist, clinically resembling a linear epidermal nevus.
  • Microscopically, the papules were composed of well-circumscribed aggregates of basaloid epithelium within the dermis.
  • Follicular germ and papillae were identified, representing abortive attempts at hair follicle formation.
  • The features were remarkably similar to a novel entity described by Finn and Argenyi as congenital panfollicular nevus.
  • In our case, the congenital panfollicular nevus was associated with distal thumb polysyndactyly, which may suggest an important link between limb patterning and hair follicle development.
  • [MeSH-major] Hair Diseases / congenital. Hamartoma / congenital. Nevus / congenital. Polydactyly / etiology. Skin Neoplasms / congenital. Thumb / abnormalities


26. Kantrow SM, Ivan D, Williams MD, Prieto VG, Lazar AJ: Metastasizing adenocarcinoma and multiple neoplastic proliferations arising in a nevus sebaceus. Am J Dermatopathol; 2007 Oct;29(5):462-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Metastasizing adenocarcinoma and multiple neoplastic proliferations arising in a nevus sebaceus.
  • Nevus sebaceus of Jadassohn is a hamartoma of multiple skin structures.
  • Many neoplasms have been reported to arise in association with nevus sebaceus, most commonly trichoblastoma/basal cell carcinoma and syringocystadenoma papilliferum.
  • We report a case of a 66-year-old woman with an adenocarcinoma as well as multiple neoplastic proliferations arising in a long standing nevus sebaceus on the scalp, with subsequent occipital neck metastatic disease.
  • On histologic evaluation, the epidermis showed changes reminiscent of tumor of the follicular infundibulum as well as basaloid proliferations resembling superficial trichoblastoma.
  • A small dermal collection of basaloid and more mature sebocytes was consistent with a sebaceoma/sebaceous epithelioma.
  • Anti-p63 labeled basaloid cells surrounding the tumor lobules.
  • This report illustrates an extraordinary case of adnexal neoplasia displaying various lines of differentiation arising in association with nevus sebaceus.
  • [MeSH-major] Adenocarcinoma / secondary. Head and Neck Neoplasms / secondary. Nevus / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Aged. Cell Proliferation. Female. Humans. Membrane Proteins / metabolism. Mucin-1 / metabolism. Receptor, ErbB-2 / metabolism






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