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Items 1 to 100 of about 145
1. Fernandez-Flores A, Sanroman J: Solitary angiokeratoma of the tonsillar pillar of the oral cavity. Rom J Morphol Embryol; 2009;50(1):115-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Solitary angiokeratoma of the tonsillar pillar of the oral cavity.
  • Solitary angiokeratoma has rarely been described in oral mucosa, mainly in the tongue, where the main concern is either aesthetical or due to bleeding problems.
  • We present a case of solitary angiokeratoma of the tonsillar pillar in a 68-year-old man.
  • Histologically, the morphology was typical of angiokeratoma.
  • [MeSH-major] Angiokeratoma / pathology. Mouth Neoplasms / pathology. Tonsillar Neoplasms / pathology

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  • (PMID = 19221656.001).
  • [ISSN] 1220-0522
  • [Journal-full-title] Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
  • [ISO-abbreviation] Rom J Morphol Embryol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Romania
  • [Chemical-registry-number] 0 / Antigens, CD; 0 / Antigens, CD31; 0 / Antigens, CD34; 9001-27-8 / Factor VIII
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2. Al-Mutairi N, Joshi A, Nour-Eldin O: Naevus lipomatosus cutaneous superficialis of Hoffmann-Zurhelle with angiokeratoma of Fordyce. Acta Derm Venereol; 2006;86(1):92-3
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  • [Title] Naevus lipomatosus cutaneous superficialis of Hoffmann-Zurhelle with angiokeratoma of Fordyce.
  • [MeSH-major] Angiokeratoma / diagnosis. Lipomatosis / diagnosis. Nevus / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 16586009.001).
  • [ISSN] 0001-5555
  • [Journal-full-title] Acta dermato-venereologica
  • [ISO-abbreviation] Acta Derm. Venereol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Norway
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3. Sion-Vardy N, Manor E, Puterman M, Bodner L: Solitary angiokeratoma of the tongue. Med Oral Patol Oral Cir Bucal; 2008 Jan;13(1):E12-4

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Solitary angiokeratoma of the tongue.
  • Angiokeratoma is a rare cutaneous lesion.
  • Oral cavity involvement is more common in the systemic form, as a part of a more generalized cutaneous disease, but very rare in the localized form of angiokeratoma.
  • On dermatologic examination, no angiokeratomas were found, anywhere on the skin.
  • The histologic diagnosis was angiokeratoma.
  • A case of a solitary angiokeratoma of the tongue is reported.
  • We report here the third intra-oral case and the second case in the tongue with solitary angiokeratoma.
  • [MeSH-major] Angiokeratoma / pathology. Tongue Neoplasms / pathology

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  • (PMID = 18167473.001).
  • [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] Case Reports; Journal Article
  • [Publication-country] Spain
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4. Leis-Dosil VM, Alijo-Serrano F, Aviles-Izquierdo JA, Lazaro-Ochaita P, Lecona-Echeverria M: Angiokeratoma of the glans penis: clinical, histopathological and dermoscopic correlation. Dermatol Online J; 2007;13(2):19
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma of the glans penis: clinical, histopathological and dermoscopic correlation.
  • Angiokeratoma is a benign vascular lesion characterized by vascular ectasia in the upper dermis and hyperkeratosis.
  • [MeSH-major] Angiokeratoma / pathology. Penis / pathology. Skin Neoplasms / pathology

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  • (PMID = 17498438.001).
  • [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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5. Luzar B, Neil SM, Calonje E: Angiokeratoma-like changes in extragenital and genital lichen sclerosus. J Cutan Pathol; 2009 May;36(5):540-2

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma-like changes in extragenital and genital lichen sclerosus.
  • They were in close proximity to and even in contact with the overlying epidermis and thus mimicked an angiokeratoma.
  • Angiokeratoma-like changes in lichen sclerosus represent secondary features because of damage to the dermis by lichen sclerosus and are characterized histologically by ectatic thin-walled vascular spaces in the papillary dermis intimately associated with the epidermis.
  • [MeSH-minor] Adolescent. Aged. Angiokeratoma / pathology. Diagnosis, Differential. Female. Humans. Male. Middle Aged. Skin Neoplasms / pathology

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  • (PMID = 19187108.001).
  • [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
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6. Malalasekera AP, Goddard JC, Terry TR: Angiokeratoma of Fordyce simulating recurrent penile cancer. Urology; 2007 Mar;69(3):576.e13-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma of Fordyce simulating recurrent penile cancer.
  • The histologic examination, however, revealed a benign angiokeratoma with no evidence of recurrent cancer.
  • Angiokeratoma on the scrotum after treatment for carcinoma of the penis has only been documented once.
  • [MeSH-major] Angiokeratoma / diagnosis. Carcinoma, Squamous Cell / diagnosis. Neoplasms, Multiple Primary / diagnosis. Penile Neoplasms / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 17382178.001).
  • [ISSN] 1527-9995
  • [Journal-full-title] Urology
  • [ISO-abbreviation] Urology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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7. Civaş E, Koç E, Aksoy B, Aksoy HM: Report of two angiokeratoma of Fordyce cases treated with a 1064 nm long-pulsed Nd:YAG laser. Photodermatol Photoimmunol Photomed; 2009 Jun;25(3):166-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Report of two angiokeratoma of Fordyce cases treated with a 1064 nm long-pulsed Nd:YAG laser.
  • Various laser treatment modalities for angiokeratomas have been reported in the literature.
  • A 60-year-old male patient presented for the treatment of multiple angiokeratomas of the scrotum and a 56-year-old female patient presented for the treatment of vulvar angiokeratomas.
  • Nd:YAG laser treatment yielded successful results in the treatment of our patients' scrotal and vulvar angiokeratomas following two application sessions.
  • We suggest that a long-pulsed Nd:YAG laser is a safe and effective method for the treatment of angiokeratoma of Fordyce.
  • [MeSH-major] Angiokeratoma / therapy. Genital Diseases, Male / therapy. Laser Therapy. Scrotum / pathology. Vulvar Diseases / therapy

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  • (PMID = 19439000.001).
  • [ISSN] 1600-0781
  • [Journal-full-title] Photodermatology, photoimmunology & photomedicine
  • [ISO-abbreviation] Photodermatol Photoimmunol Photomed
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
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8. Kwon NH, Kim SY, Kim GM: A case of post-injury angiokeratoma circumscriptum of the chest. Ann Dermatol; 2010 Feb;22(1):66-8

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A case of post-injury angiokeratoma circumscriptum of the chest.
  • Angiokeratomas represent vascular lesions and are histologically characterized by superficial vascular ectasia and overlying acanthosis and/or hyperkeratosis.
  • Angiokeratomas can be classified into five types, with angiokeratoma circumscriptum representing the least common of the five types.
  • Angiokeratoma circumscriptum presents at birth and frequently occurs unilaterally on the leg.
  • Herein, we report a rare case of long term angiokeratoma circumscriptum (twelve years) on the right chest, discovered following the excision of a lipoma from the same area.

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  • [Cites] Dermatol Surg. 2005 Feb;31(2):232-6 [15762221.001]
  • [Cites] Dermatology. 1996;193(4):275-82 [8993949.001]
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  • (PMID = 20548886.001).
  • [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/ PMC2883402
  • [Keywords] NOTNLM ; Angiokeratoma circumscriptum / Chest / Injury
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9. Bathelier E, Gunera-Saad N, Bérard F, Nicolas JF: Angiokeratoma induced by injection of etanercept for psoriasis. J Am Acad Dermatol; 2008 Nov;59(5 Suppl):S124-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma induced by injection of etanercept for psoriasis.
  • [MeSH-major] Angiokeratoma / chemically induced. Immunoglobulin G / adverse effects. Psoriasis / drug therapy

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  • (PMID = 19119125.001).
  • [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; Letter
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Immunoglobulin G; 0 / Receptors, Tumor Necrosis Factor; OP401G7OJC / Etanercept
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10. Siponen M, Penna T, Apaja-Sarkkinen M, Palatsi R, Salo T: Solitary angiokeratoma of the tongue. J Oral Pathol Med; 2006 Apr;35(4):252-3

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Solitary angiokeratoma of the tongue.
  • Angiokeratoma is a rare, cutaneous vascular disorder that can occur in several clinically distinct conditions.
  • Oral mucosal involvement is common in the systemic form, but very rare in the localized forms of angiokeratomas.
  • We report the second case of a solitary papular angiokeratoma of the oral cavity.
  • [MeSH-major] Angiokeratoma / pathology. Tongue Neoplasms / pathology

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  • (PMID = 16519775.001).
  • [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] Case Reports; Journal Article
  • [Publication-country] Denmark
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11. Ergun S, Mete O, Yeşil S, Tanyeri H: Solitary angiokeratoma of the tongue treated with diode laser. Lasers Med Sci; 2009 Jan;24(1):123-5

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Solitary angiokeratoma of the tongue treated with diode laser.
  • Angiokeratoma is a muco-cutaneous disorder that is usually associated with a number of metabolic disorders.
  • Involvement of the tongue with solitary angiokeratoma, without a systemic or metabolic disease, is very rare.
  • To the best of our knowledge, we report the second case of solitary angiokeratoma of the tongue arising in a 16-year-old woman who was treated with diode laser (810 nm) in our department.
  • [MeSH-major] Angiokeratoma / surgery. Lasers, Semiconductor / therapeutic use. Tongue Neoplasms / surgery

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  • [ErratumIn] Lasers Med Sci. 2009 Jan;24(1):127
  • (PMID = 18057978.001).
  • [ISSN] 0268-8921
  • [Journal-full-title] Lasers in medical science
  • [ISO-abbreviation] Lasers Med Sci
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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12. Kanitakis J, Ly A, Claudy A: Eccrine angiokeratomatous hamartoma: a new variant of eccrine hamartoma with angiokeratoma. J Am Acad Dermatol; 2006 Nov;55(5 Suppl):S104-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Eccrine angiokeratomatous hamartoma: a new variant of eccrine hamartoma with angiokeratoma.

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  • (PMID = 17052519.001).
  • [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; Letter
  • [Publication-country] United States
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13. Mittal R, Aggarwal A, Srivastava G: Angiokeratoma circumscriptum: a case report and review of the literature. Int J Dermatol; 2005 Dec;44(12):1031-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma circumscriptum: a case report and review of the literature.
  • [MeSH-major] Angiokeratoma / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 16409270.001).
  • [ISSN] 0011-9059
  • [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] 31
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14. Seo SH, Chin HW, Sung HW: Angiokeratoma of Fordyce treated with 0.5% ethanolamine oleate or 0.25% sodium tetradecyl sulfate. Dermatol Surg; 2010 Oct;36(10):1634-7

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma of Fordyce treated with 0.5% ethanolamine oleate or 0.25% sodium tetradecyl sulfate.
  • [MeSH-major] Angiokeratoma / therapy. Oleic Acids / administration & dosage. Sclerosing Solutions / administration & dosage. Sclerotherapy / methods. Sodium Tetradecyl Sulfate / administration & dosage

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  • (PMID = 21053421.001).
  • [ISSN] 1524-4725
  • [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
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Oleic Acids; 0 / Sclerosing Solutions; 0 / Surface-Active Agents; 3282-75-5 / ethanolamine oleate; Q1SUG5KBD6 / Sodium Tetradecyl Sulfate
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15. Ries M, Schiffmann R: Fabry disease: angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney function. Arch Dermatol; 2005 Jul;141(7):904-5; author reply 905-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease: angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney function.
  • [MeSH-major] Angiokeratoma / diagnosis. Angiokeratoma / epidemiology. Fabry Disease / diagnosis. Fabry Disease / epidemiology
  • [MeSH-minor] Adolescent. Age Distribution. Biomarkers / analysis. Child. Child, Preschool. Comorbidity. Confidence Intervals. Disease Progression. Female. Humans. Incidence. Male. Prognosis. Risk Factors. Sensitivity and Specificity. Severity of Illness Index. Sex Distribution. Treatment Outcome. Trihexosylceramides / therapeutic use

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  • [CommentOn] Arch Dermatol. 2004 Dec;140(12):1526-8 [15611435.001]
  • (PMID = 16027312.001).
  • [ISSN] 0003-987X
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Publication-type] Comment; Comparative Study; Letter; Meta-Analysis
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers; 0 / Trihexosylceramides
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16. Pianezza ML, Singh D, Van der Kwast T, Jarvi K: Rare case of recurrent angiokeratoma of Fordyce on penile shaft. Urology; 2006 Oct;68(4):891.e1-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Rare case of recurrent angiokeratoma of Fordyce on penile shaft.
  • Angiokeratomas are benign cutaneous vascular lesions characterized by dilated thin-walled blood vessels lying in the upper part of the dermis, mostly associated with an epidermal reaction such as acanthosis and/or hyperkeratosis.
  • Angiokeratomas of Fordyce are predominantly located on the scrotum and are only rarely found on the penis and then usually on the glans penis.
  • We report a rare case of angiokeratoma of Fordyce located on the shaft of the penis and associated with two recurrences after appropriate surgical excision.
  • [MeSH-major] Angiokeratoma / pathology. Skin Neoplasms / pathology

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  • (PMID = 17070385.001).
  • [ISSN] 1527-9995
  • [Journal-full-title] Urology
  • [ISO-abbreviation] Urology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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17. Sahin MT, Türel-Ermertcan A, Oztürkcan S, Türkdogan P: Thrombosed solitary angiokeratoma of Mibelli simulating malignant melanoma: the importance of dermoscopy in differential diagnosis. J Eur Acad Dermatol Venereol; 2006 Jan;20(1):102-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Thrombosed solitary angiokeratoma of Mibelli simulating malignant melanoma: the importance of dermoscopy in differential diagnosis.
  • [MeSH-major] Angiokeratoma / diagnosis. Dermoscopy. Thrombosis / diagnosis

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  • (PMID = 16405622.001).
  • [ISSN] 0926-9959
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Netherlands
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18. Ghorpade A: Naevoid blaschkoid red-blue lesions in an Indian boy. Angiokeratoma corporis naeviforme along the lines of Blaschko. Clin Exp Dermatol; 2010 Apr;35(3):e79-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Naevoid blaschkoid red-blue lesions in an Indian boy. Angiokeratoma corporis naeviforme along the lines of Blaschko.
  • [MeSH-major] Angiokeratoma / pathology. Leg. Nevus, Blue / pathology. Skin Neoplasms / pathology

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  • (PMID = 20500192.001).
  • [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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19. Albano LM, Rivitti C, Bertola DR, Honjo RS, Kelmann SV, Giugliani R, Kim CA: Angiokeratoma: a cutaneous marker of Fabry's disease. Clin Exp Dermatol; 2010 Jul;35(5):505-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma: a cutaneous marker of Fabry's disease.
  • The initial symptoms of Fabry's disease (FD) may seem harmless and may delay its diagnosis.
  • A survey and screening for FD were performed on men with biopsy-proven angiokeratoma and some of their relatives (n = 29).
  • [MeSH-major] Angiokeratoma / pathology. Fabry Disease / pathology. Skin Neoplasms / pathology
  • [MeSH-minor] Adult. Biopsy. Child. Female. Genetic Predisposition to Disease. Humans. Male. Middle Aged. Pedigree. Young Adult

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  • (PMID = 19843083.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
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20. Kelly B, Kelly E: Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities. Arch Dermatol; 2006 May;142(5):615-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities.
  • BACKGROUND: Angiokeratoma corporis diffusum is a clinical variant of angiokeratoma that is typically associated with an enzyme deficiency in the metabolism of glycoprotein, most notably Fabry disease, resulting in many other systemic manifestations.
  • OBSERVATIONS: We report a case of angiokeratoma corporis diffusum that did not have an identifiable enzyme deficiency.
  • CONCLUSION: Angiokeratoma corporis diffusum without recognizable enzyme deficiencies appears to be a distinct clinical entity with a benign course.
  • [MeSH-major] Fabry Disease / diagnosis

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  • [CommentIn] Arch Dermatol. 2006 Nov;142(11):1509 [17116851.001]
  • (PMID = 16702499.001).
  • [ISSN] 0003-987X
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 28
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21. Lapidoth M, Ad-El D, David M, Azaria R: Treatment of angiokeratoma of Fordyce with pulsed dye laser. Dermatol Surg; 2006 Sep;32(9):1147-50
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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 angiokeratoma of Fordyce with pulsed dye laser.
  • BACKGROUND: Angiokeratomas of Fordyce are typically asymptomatic vascular lesions characterized by blue-to-red papules with a scale surface, most often located on the scrotum.
  • OBJECTIVE: The objective was to determine the safety and effectiveness of 585-nm pulsed dye laser for the treatment of angiokeratomas of Fordyce.
  • METHODS: Twelve patients with Fitzpatrick skin type II to IV were treated for angiokeratomas of Fordyce with pulsed dye laser (5.5-8.0 J/cm(2)) in two to six sessions.
  • CONCLUSION: Pulsed dye laser is effective and safe for the treatment of angiokeratoma of Fordyce, with minimum side effects, providing an additional nonablative therapeutic option.
  • [MeSH-major] Angiokeratoma / radiotherapy. Genital Neoplasms, Male / radiotherapy. Low-Level Light Therapy / methods. Skin Neoplasms / radiotherapy

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  • (PMID = 16970695.001).
  • [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] Comparative Study; Journal Article
  • [Publication-country] United States
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22. Pavone P, Lucenti C, Fraggetta F, Micali G, Incorpora G, Ruggieri M: Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment. J Clin Gastroenterol; 2008 Jul;42(6):715-9
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  • [Title] Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment.
  • We describe a biopsy-proven case of severe lymphangiectasia-lymphedema in a 16-year-old boy who was born to consanguineous parents and who, in addition, had mild (20 to 40 dB), early onset, sensorineural deafness and skin abnormalities, consisting of angiokeratomas of the face, hands, and feet, and also a large, localized angiokeratoma of the scrotum and the penis (Fordyce type).
  • [MeSH-major] Angiokeratoma / complications. Hearing Loss, Sensorineural / complications. Lymphangiectasis / complications. Lymphedema / complications


23. Okuyama R, Masu T, Mizuashi M, Watanabe M, Tagami H, Aiba S: Pseudolymphomatous angiokeratoma: report of three cases and an immunohistological study. Clin Exp Dermatol; 2009 Mar;34(2):161-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Pseudolymphomatous angiokeratoma: report of three cases and an immunohistological study.
  • BACKGROUND: Pseudolymphomatous angiokeratoma (PA), originally termed 'acral pseudolymphomatous angiokeratoma of children', is a disorder characterized clinically by development of red nodules on the extremities and histologically by a subepidermal dense lymphocyte infiltrate.
  • [MeSH-major] Angiokeratoma / pathology. B-Lymphocytes / pathology. Skin Neoplasms / pathology. T-Lymphocytes / pathology

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  • (PMID = 18681875.001).
  • [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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24. Fauchais AL, Prey S, Ouatara B, Vidal E, Sparsa A: Angiokeratoma regression in a Fabry disease after treatment with agalsidase-beta: clinical effectiveness marker? J Eur Acad Dermatol Venereol; 2010 Jun;24(6):737-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma regression in a Fabry disease after treatment with agalsidase-beta: clinical effectiveness marker?
  • [MeSH-major] Angiokeratoma / drug therapy. Enzyme Replacement Therapy / methods. Fabry Disease / drug therapy. Isoenzymes / therapeutic use. Skin Neoplasms / drug therapy. alpha-Galactosidase / therapeutic use

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  • (PMID = 19925601.001).
  • [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] Case Reports; Letter
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Isoenzymes; EC 3.2.1.- / agalsidase beta; EC 3.2.1.22 / alpha-Galactosidase
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25. Zlotoff BJ, Bang RH, Padilla RS, Morrison L: Cutaneous angiokeratoma and venous malformations in a Hispanic-American patient with cerebral cavernous malformations. Br J Dermatol; 2007 Jul;157(1):210-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cutaneous angiokeratoma and venous malformations in a Hispanic-American patient with cerebral cavernous malformations.
  • [MeSH-major] Angiokeratoma / genetics. Intracranial Arteriovenous Malformations / genetics. Microtubule-Associated Proteins / genetics. Proto-Oncogene Proteins / genetics. Skin Neoplasms / genetics

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  • (PMID = 17578448.001).
  • [ISSN] 0007-0963
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
  • [Chemical-registry-number] 0 / KRIT1 protein, human; 0 / Microtubule-Associated Proteins; 0 / Proto-Oncogene Proteins
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26. Yap FB, Pubalan M: Angiokeratoma corporis diffusum. Med J Malaysia; 2008 Oct;63(4):329-30

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma corporis diffusum.
  • Angiokeratoma is a dark violaceous keratotic papule which can be solitary or multiple.
  • Generalised systemic angiokeratoma constitute angiokeratoma corporis diffusum, a rare X-linked recessive inborn error of glycosphingolipid metabolism due to deficiency of alpha galactosidase A.
  • Patients with this disease have premature death due to the vascular complications.
  • A case of possible Fabry's disease is presented.
  • [MeSH-major] Fabry Disease / pathology

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  • (PMID = 19385495.001).
  • [ISSN] 0300-5283
  • [Journal-full-title] The Medical journal of Malaysia
  • [ISO-abbreviation] Med. J. Malaysia
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Malaysia
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27. Trickett R, Dowd H: Angiokeratoma of the scrotum: a case of scrotal bleeding. Emerg Med J; 2006 Oct;23(10):e57
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma of the scrotum: a case of scrotal bleeding.
  • A diagnosis of angiokeratoma of the scrotum (Fordyce) was made and potential precipitants such as intra-abdominal masses, urinary tract tumours, varicoceles, hernias and angiokeratoma corporis diffusum (Fabry syndrome) were excluded.
  • The important differential diagnoses are angiokeratoma corporis diffusum and malignant melanoma (nodular type).
  • In females, Fordyce angiokeratoma are distributed on labia majora.
  • [MeSH-major] Angiokeratoma / diagnosis. Hemorrhage / etiology. Scrotum. Skin Neoplasms / diagnosis

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  • [Cites] Mil Med. 1994 Jul;159(7):523-4 [7816227.001]
  • [Cites] Arch Dermatol. 2005 Oct;141(10):1325-6 [16230581.001]
  • [Cites] Dermatology. 1996;193(4):275-82 [8993949.001]
  • (PMID = 16988295.001).
  • [ISSN] 1472-0213
  • [Journal-full-title] Emergency medicine journal : EMJ
  • [ISO-abbreviation] Emerg Med J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2579622
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28. Yaqoob N, Ahsan A, Ahmed Z, Husain A, Ahmed R, Kayani N, Pervez S, Hassan S: Angiokeratoma of tongue: a series of 14 cases. J Pak Med Assoc; 2006 Jun;56(6):285-7

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma of tongue: a series of 14 cases.
  • Angiokeratomas (AC) are vascular lesions which are defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction with ectatic capillaries in the papillary dermis.
  • Only three other cases of isolated mucosal angiokeratoma have been reported in the indexed literature.
  • We reviewed all cases of angiokeratoma located on the tongue, diagnosed in our department during a study period of 10 years (1995-2005).
  • No clinical data was available to assess systemic disease.
  • [MeSH-major] Angiokeratoma / diagnosis. Tongue Neoplasms / diagnosis
  • [MeSH-minor] Diagnosis, Differential. Fabry Disease / diagnosis. Female. Humans. Male

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  • (PMID = 16827254.001).
  • [ISSN] 0030-9982
  • [Journal-full-title] JPMA. The Journal of the Pakistan Medical Association
  • [ISO-abbreviation] J Pak Med Assoc
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Pakistan
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29. Pfirrmann G, Raulin C, Karsai S: Angiokeratoma of the lower extremities: successful treatment with a dual-wavelength laser system (595 and 1064 nm). J Eur Acad Dermatol Venereol; 2009 Feb;23(2):186-7

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma of the lower extremities: successful treatment with a dual-wavelength laser system (595 and 1064 nm).
  • [MeSH-major] Angiokeratoma / therapy. Laser Therapy

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  • (PMID = 18435732.001).
  • [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] Case Reports; Letter
  • [Publication-country] Netherlands
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30. Oni G, Mahaffey P: Treatment of angiokeratoma of the vulva with pulsed dye laser therapy. J Cosmet Laser Ther; 2010 Feb;12(1):51-2
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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 angiokeratoma of the vulva with pulsed dye laser therapy.
  • Angiokeratoma of the vulva is relatively rare with few cases reported in the literature.
  • [MeSH-major] Angiokeratoma / radiotherapy. Lasers, Dye. Low-Level Light Therapy / methods. Skin Neoplasms / radiotherapy. Vulva

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  • (PMID = 19929291.001).
  • [ISSN] 1476-4180
  • [Journal-full-title] Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology
  • [ISO-abbreviation] J Cosmet Laser Ther
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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31. Yildirim M, Kilinç N, Oktay MF, Topçu I: A case of solitary angiokeratoma circumscriptum of the tongue. Kulak Burun Bogaz Ihtis Derg; 2007;17(6):333-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A case of solitary angiokeratoma circumscriptum of the tongue.
  • Angiokeratoma circumscriptum is an uncommon vascular entity.
  • After an incisional biopsy of the lesion, the diagnosis was made as solitary angiokeratoma circumscriptum.
  • [MeSH-major] Angiokeratoma / diagnosis. Skin Neoplasms / diagnosis. Tongue / pathology

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  • (PMID = 18187999.001).
  • [ISSN] 1300-7475
  • [Journal-full-title] Kulak burun boğaz ihtisas dergisi : KBB = Journal of ear, nose, and throat
  • [ISO-abbreviation] Kulak Burun Bogaz Ihtis Derg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Turkey
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32. Bechara FG, Happle R, Altmeyer P, Grabbe S, Jansen T: Angiokeratoma circumscriptum arranged in a systematized band-like pattern suggesting mosaicism. J Dermatol; 2006 Jul;33(7):489-91
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma circumscriptum arranged in a systematized band-like pattern suggesting mosaicism.
  • The clinical and histopathological findings were consistent with a diagnosis of angiokeratoma circumscriptum.
  • The systematized band-like arrangement observed in the present case strongly supports the concept that angiokeratoma circumscriptum reflects a mosaic state of a mutation that is so far unknown.
  • [MeSH-major] Angiokeratoma / pathology. Skin Neoplasms / pathology

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  • (PMID = 16848823.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
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33. Yiğiter M, Arda IS, Tosun E, Celik M, Hiçsönmez A: Angiokeratoma of clitoris: a rare lesion in an adolescent girl. Urology; 2008 Apr;71(4):604-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma of clitoris: a rare lesion in an adolescent girl.
  • Angiokeratoma is a benign vascular lesion.
  • Angiokeratoma is more common in males, in whom it forms on the scrotal wall.
  • We present the case of a 14-year-old girl with a clitoral angiokeratoma.
  • To our knowledge, this is the first presented case of clitoral angiokeratoma in a child in English published reports.
  • [MeSH-major] Angiokeratoma / pathology. Clitoris. Skin Neoplasms / pathology

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  • (PMID = 18291515.001).
  • [ISSN] 1527-9995
  • [Journal-full-title] Urology
  • [ISO-abbreviation] Urology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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34. Ozdemir M, Baysal I, Engin B, Ozdemir S: Treatment of angiokeratoma of Fordyce with long-pulse neodymium-doped yttrium aluminium garnet laser. Dermatol Surg; 2009 Jan;35(1):92-7
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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 angiokeratoma of Fordyce with long-pulse neodymium-doped yttrium aluminium garnet laser.
  • BACKGROUND: Angiokeratomas are typically asymptomatic, blue-to-red papules with a scaly surface located on the scrotum, shaft of penis, labia majora, inner thigh, or lower abdomen.
  • The treatment of angiokeratomas may be necessary if they bleed and lead to patient anxiety.
  • OBJECTIVE: To determine the safety and effectiveness of long-pulse 1,064 neodymium-doped yttrium aluminium garnet (Nd:YAG) laser for the treatment of angiokeratomas of Fordyce.
  • MATERIALS AND METHODS: Ten consecutive patients with angiokeratoma of Fordyce were treated with long-pulse Nd:YAG laser in two to six sessions.
  • CONCLUSION: The long-pulse Nd:YAG laser is a highly effective and safe treatment for angiokeratoma of Fordyce.
  • [MeSH-major] Angiokeratoma / radiotherapy. Lasers, Solid-State / therapeutic use. Skin Neoplasms / radiotherapy

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  • (PMID = 19076189.001).
  • [ISSN] 1524-4725
  • [Journal-full-title] Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
  • [ISO-abbreviation] Dermatol Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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35. Dunnihoo ME, Kitterman RT, Tran D: Angiokeratoma presenting as plantar verruca: a case study. J Am Podiatr Med Assoc; 2010 Nov-Dec;100(6):502-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma presenting as plantar verruca: a case study.
  • Solitary angiokeratomas can be morphologically similar to plantar verrucae, presenting as hyperkeratotic pedunculated lesions.
  • We present a unique case study of a 40-year-old man with human immunodeficiency virus with a painful solitary angiokeratoma masquerading as plantar verrucae.
  • We propose that solitary angiokeratomas should be an important part of a podiatric physician's differential diagnosis in the lower extremity owing to the similarity of morphological features with plantar verrucae.
  • [MeSH-major] Angiokeratoma / diagnosis. Angiokeratoma / epidemiology. HIV Infections / epidemiology. Warts / diagnosis

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  • (PMID = 21084538.001).
  • [ISSN] 1930-8264
  • [Journal-full-title] Journal of the American Podiatric Medical Association
  • [ISO-abbreviation] J Am Podiatr Med Assoc
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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36. Rees R, Freeman A, Malone P, Garaffa G, Muneer A, Minhas S: Case study: the surgical management of angiokeratoma resulting from radiotherapy for penile cancer. ScientificWorldJournal; 2009;9:339-42
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Case study: the surgical management of angiokeratoma resulting from radiotherapy for penile cancer.
  • Angiokeratoma is a rare, benign skin lesion and a recognised complication of radiation therapy.
  • Here we describe a case of extensive angiokeratoma of the groin and external genitalia resulting from external beam radiation to that area in a patient with penile carcinoma.
  • [MeSH-major] Angiokeratoma / etiology. Radiotherapy / adverse effects. Skin Neoplasms / etiology

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  • (PMID = 19468654.001).
  • [ISSN] 1537-744X
  • [Journal-full-title] TheScientificWorldJournal
  • [ISO-abbreviation] ScientificWorldJournal
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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37. del Pozo J, Fonseca E: Angiokeratoma circumscriptum naeviforme: successful treatment with carbon-dioxide laser vaporization. Dermatol Surg; 2005 Feb;31(2):232-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma circumscriptum naeviforme: successful treatment with carbon-dioxide laser vaporization.
  • BACKGROUND: Angiokeratoma circumscriptum naeviforme (ACN) is an unusual type of localized angiokeratoma that occurs more frequently in females and is usually located on the buttocks or thighs, showing a unilateral distribution.
  • Carbon-dioxide laser is a known alternative for treating angiokeratomas.
  • [MeSH-major] Angiokeratoma / diagnosis. Angiokeratoma / surgery. Skin Neoplasms / diagnosis. Skin Neoplasms / surgery

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  • (PMID = 15762221.001).
  • [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
  • [Publication-country] United States
  • [Chemical-registry-number] 142M471B3J / Carbon Dioxide
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38. Baruah J, Roy KK, Rahman SM, Kumar S, Pushparaj M, Mirdha AR: Angiokeratoma of vulva with coexisting human papilloma virus infection: a case report. Arch Gynecol Obstet; 2008 Aug;278(2):165-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma of vulva with coexisting human papilloma virus infection: a case report.
  • A wide local excision was performed and histopathological report confirmed a case of angiokeratoma.
  • To the best of our knowledge this is the first case of angiokeratoma of vulva following chronic HPV infection.
  • [MeSH-major] Angiokeratoma / virology. Human papillomavirus 6 / isolation & purification. Papillomavirus Infections / complications. Skin Neoplasms / virology. Vulva

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  • (PMID = 18193251.001).
  • [ISSN] 0932-0067
  • [Journal-full-title] Archives of gynecology and obstetrics
  • [ISO-abbreviation] Arch. Gynecol. Obstet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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39. Gansz B, Ständer S, Metze D: [Acral pseudolymphomatous angiokeratoma of children (APACHE)]. Hautarzt; 2005 Mar;56(3):270-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Acral pseudolymphomatous angiokeratoma of children (APACHE)].
  • Acral pseudolymphomatous angiokeratoma of children (APACHE) is a pseudolymphoma of posttraumatic origin which was first described in 1988.
  • [MeSH-major] Angiokeratoma / pathology. Angiokeratoma / therapy. Foot Injuries / pathology. Pseudolymphoma / pathology. Pseudolymphoma / therapy. Skin Neoplasms / pathology. Skin Neoplasms / therapy

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  • (PMID = 15580454.001).
  • [ISSN] 0017-8470
  • [Journal-full-title] Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete
  • [ISO-abbreviation] Hautarzt
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
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40. Kontogianni-Katsaros K, Kairi-Vassilatoy E, Grapsa D, Papadias K, Hasiakos D, Kondi-Pafitis A: Angiokeratoma of the vulva: a rare benign vascular tumor mimicking malignancy--case reports. Eur J Gynaecol Oncol; 2006;27(6):632-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma of the vulva: a rare benign vascular tumor mimicking malignancy--case reports.
  • Angiokeratomas are rare benign dermal lesions of the external genital system and occur before the age of 50 years.
  • Four cases of angiokeratoma of the vulva diagnosed at our institution in a ten-year-period are reported and issues of the differential diagnosis are discussed.
  • [MeSH-major] Angiokeratoma / pathology. Skin Neoplasms / pathology. Vulvar Diseases / pathology

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  • (PMID = 17290602.001).
  • [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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41. Kanitakis J, Allombert C, Doebelin B, Deroo-Berger MC, Grande S, Blanc S, Claudy A: Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review. J Cutan Pathol; 2005 Aug;32(7):506-11
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review.
  • Fucosidosis is a rare lysosomal storage disease due to alpha-L-fucosidase deficiency.
  • It presents clinically with neurological, skeletal, and cutaneous findings, including mainly angiokeratoma corporis diffusum.
  • We present here a new patient suffering from fucosidosis with angiokeratoma, whose normal and diseased skin was studied by lightmicroscopy and electronmicroscopy.
  • The salient clinicopathological features of this disease are briefly reviewed.
  • [MeSH-major] Fabry Disease / pathology. Fucosidosis / pathology. Skin / pathology

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  • (PMID = 16008696.001).
  • [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 / Biomarkers; EC 3.2.1.51 / alpha-L-Fucosidase
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42. Fernández-Aceñero MJ, Rey Biel J, Renedo G: Solitary angiokeratoma of the tongue in adults. Rom J Morphol Embryol; 2010;51(4):771-3
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  • [Title] Solitary angiokeratoma of the tongue in adults.
  • Angiokeratomas are vascular malformations that usually appear as multiple or solitary cutaneous plaques.
  • Mucosal involvement, including the oral cavity, is occasionally found either as a component of the systemic variety, called angiokeratoma corporis diffusum, or associated with cutaneous lesions in more locations.
  • [MeSH-major] Angiokeratoma / pathology. Tongue Neoplasms / pathology

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  • (PMID = 21103640.001).
  • [ISSN] 1220-0522
  • [Journal-full-title] Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
  • [ISO-abbreviation] Rom J Morphol Embryol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Romania
  • [Chemical-registry-number] 0 / Antigens, CD31; 0 / Antigens, CD34; 0 / LYVE1 protein, human; 0 / Vesicular Transport Proteins
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43. Ulker V, Cakir E, Gedikbasi A, Akyol A, Numanoglu C, Gulkilik A: Angiokeratoma of the clitoris with evident vulvar varicosity. J Obstet Gynaecol Res; 2010 Dec;36(6):1249-51
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma of the clitoris with evident vulvar varicosity.
  • Angiokeratomas of the vulva are uncommon, benign vascular lesions that are generally located on the labia.
  • We report a case of clitoral angiokeratoma in a 22-year-old nulligravida with a history of surgery to remove a clitoral mass at 6 years of age.
  • [MeSH-major] Angiokeratoma / pathology. Clitoris / pathology. Skin Neoplasms / pathology

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  • [Copyright] © 2010 The Authors. Journal of Obstetrics and Gynaecology Research © 2010 Japan Society of Obstetrics and Gynecology.
  • (PMID = 21040198.001).
  • [ISSN] 1447-0756
  • [Journal-full-title] The journal of obstetrics and gynaecology research
  • [ISO-abbreviation] J. Obstet. Gynaecol. Res.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Australia
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44. Garrido-Ríos AA, Sánchez-Velicia L, Marino-Harrison JM, Torrero-Antón MV, Miranda-Romero A: [A histopathologic and imaging study of verrucous hemangioma]. Actas Dermosifiliogr; 2008 Nov;99(9):723-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The terms verrucous hemangioma and angiokeratoma circumscriptum have been used interchangeably in the literature to define clinically similar lesions.
  • From a histologic perspective, however, angiokeratoma circumscriptum is limited to the papillary dermis whereas verrucous hemangioma extends as far as the hypodermis.
  • We describe the case of a 38-year-old woman who consulted for a lesion on the right thigh that was initially diagnosed as angiokeratoma; magnetic resonance imaging, however, led to a final diagnosis of verrucous hemangioma.

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  • [CommentIn] Actas Dermosifiliogr. 2009 Jun;100(5):437; author reply 438-9 [19558927.001]
  • (PMID = 19087812.001).
  • [ISSN] 0001-7310
  • [Journal-full-title] Actas dermo-sifiliográficas
  • [ISO-abbreviation] Actas Dermosifiliogr
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Spain
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45. Varshney S: Angiokeratoma circumscriptum of the tongue. Int J Dermatol; 2005 Oct;44(10):886-8

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma circumscriptum of the tongue.
  • [MeSH-major] Angiokeratoma / diagnosis. Tongue Neoplasms / diagnosis

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  • [CommentIn] Int J Dermatol. 2009 Jul;48(7):778-81 [19570090.001]
  • (PMID = 16207201.001).
  • [ISSN] 0011-9059
  • [Journal-full-title] International journal of dermatology
  • [ISO-abbreviation] Int. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] United States
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46. Kim Y, Dawes-Higgs E, Mann S, Cook DK: Acral pseudolymphomatous angiokeratoma of children (APACHE). Australas J Dermatol; 2005 Aug;46(3):177-80
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  • [Title] Acral pseudolymphomatous angiokeratoma of children (APACHE).
  • The histopathology examination revealed a massive subepidermal lymphohistiocytic infiltrate, consistent with acral pseudolymphomatous angiokeratoma of children.
  • The authors prefer the term 'papular angiolymphoid hyperplasia' for this entity, based on the absence of histological angiokeratomatous features, the benign nature of the lesion and the previously reported cases from adults and non-acral sites.
  • [MeSH-major] Angiokeratoma / diagnosis. Pseudolymphoma / diagnosis. Skin Neoplasms / diagnosis

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  • (PMID = 16008651.001).
  • [ISSN] 0004-8380
  • [Journal-full-title] The Australasian journal of dermatology
  • [ISO-abbreviation] Australas. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Australia
  • [Chemical-registry-number] 0 / Anti-Inflammatory Agents; 0 / Pregnadienediols; 04201GDN4R / Mometasone Furoate
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47. Cakmak SK, Gönül M, Gül U, Gündüz H, Demiriz M, Ustüner E: Unilateral angiokeratoma of the breast. Eur J Dermatol; 2009 Jan-Feb;19(1):75-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Unilateral angiokeratoma of the breast.
  • [MeSH-major] Angiokeratoma / diagnosis. Breast. Skin Neoplasms / diagnosis

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  • (PMID = 19171535.001).
  • [ISSN] 1167-1122
  • [Journal-full-title] European journal of dermatology : EJD
  • [ISO-abbreviation] Eur J Dermatol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] France
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48. Khatami A, Ghorbani Z, Gorouhi F, Davari P, Firooz A: Angiokeratoma and epidermal nevus. Eur J Dermatol; 2008 Jan-Feb;18(1):100-1
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma and epidermal nevus.
  • [MeSH-major] Angiokeratoma / pathology. Nevus / pathology. Skin Neoplasms / pathology


49. Sierra-Luzuriaga G, Sierra-Montenegro E, Carrillo-Vedova C, Leone-Stay G: [Intergluteal angiokeratoma circumscriptum. Report of one case]. Cir Cir; 2006 Sep-Oct;74(5):373-5
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  • [Title] [Intergluteal angiokeratoma circumscriptum. Report of one case].
  • [Transliterated title] Angioqueratoma circunscrito interglúteo. Reporte de un caso.
  • BACKGROUND: The term angiokeratoma is applied to several diseases with cutaneous vascular lesions.
  • DISCUSSION: Five types of angiokeratomas have been described (angiokeratoma corporis diffusum, angiokeratoma of Mibelli, angiokeratoma of Fordyce, solitary angiokeratoma and angiokeratoma corporal circumscriptum).
  • This patient was identified with an angiokeratoma circumscriptum by pathological and physical characteristics of the tumor.
  • Differential diagnosis is with verrucous hemangioma and the Fabry disease type II (angiokeratoma corporis diffusum).
  • [MeSH-major] Angiokeratoma / surgery. Skin Neoplasms / surgery

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  • (PMID = 17224109.001).
  • [ISSN] 0009-7411
  • [Journal-full-title] Cirugía y cirujanos
  • [ISO-abbreviation] Cir Cir
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Mexico
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50. Tennant LB, Mulliken JB, Perez-Atayde AR, Kozakewich HP: Verrucous hemangioma revisited. Pediatr Dermatol; 2006 May-Jun;23(3):208-15
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  • We analyzed the clinical and histopathologic characteristics of verrucous hemangioma, compared these findings to hyperkeratotic mimickers such as capillary-lymphatic malformation or capillary-venous malformation and angiokeratoma circumscriptum, and reconsidered whether the term verrucous hemangioma is appropriate in the current nosology of vascular anomalies.
  • Fourteen similar-appearing localized hyperkeratotic vascular lesions were identified by one surgeon as either angiokeratoma, angiokeratoma circumscriptum, capillary-venous malformation, capillary-lymphatic malformation, or verrucous hemangioma.
  • After histologic review, three lesions were designated as combined vascular malformations composed of capillaries, lymphatics, and veins, and none was designated as angiokeratoma.
  • [MeSH-minor] Adolescent. Angiokeratoma / pathology. Child. Child, Preschool. Diagnosis, Differential. Glucose Transporter Type 1 / metabolism. Humans. Infant. Infant, Newborn. Keratosis / pathology. Port-Wine Stain / pathology. Retrospective Studies


51. Molho-Pessach V, Bargal R, Abramowitz Y, Doviner V, Ingber A, Raas-Rothschild A, Ne'eman Z, Zeigler M, Zlotogorski A: Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. J Am Acad Dermatol; 2007 Sep;57(3):407-12
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.
  • OBJECTIVES: We report here a 36-year-old Arab female with beta-mannosidosis who presented with mental retardation and multiple angiokeratomas.
  • RESULTS: Histopathology of a skin biopsy specimen from the patient showed the characteristic findings of angiokeratoma.
  • The importance of angiokeratoma corporis diffusum as the clue to the diagnosis of beta-mannosidosis and other lysosomal storage diseases is emphasized.
  • [MeSH-major] Arabs / genetics. Codon, Nonsense. Fabry Disease / etiology. beta-Mannosidase / genetics. beta-Mannosidosis / complications. beta-Mannosidosis / genetics


52. Liapis A, Bakalianou K, Salakos N, Iavazzo C, Dalainas I, Kondi-Pafiti A: Vascular tumors: rare neoplasms of the female genital tract. Eur J Gynaecol Oncol; 2009;30(2):220-2

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • More specifically, we identified one patient with angiomyxoma, five patients with angiokeratoma, one patient with vascular malformation, two with cervical hemangioma, two with hemangioma of the uterus and two with ovarian hemangioma.
  • [MeSH-minor] Adult. Aged. Angiokeratoma / pathology. Female. Hemangioma / pathology. Humans. Middle Aged. Myxoma / pathology

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  • (PMID = 19480262.001).
  • [ISSN] 0392-2936
  • [Journal-full-title] European journal of gynaecological oncology
  • [ISO-abbreviation] Eur. J. Gynaecol. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Italy
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53. Aidagulova SV, Zhornik TM, Nepomnyashchikh DL, Marinkin IO, Vinogradova EV, Nokhrina ZhV: Ultrastructural modification of the endothelium in placental insufficiency and microangiopathies. Bull Exp Biol Med; 2009 May;147(5):650-4

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Structural reorganization of endotheliocytes was studied on models of various pathological processes: placental dysfunction, glomerular pathology, vibration syndrome, antiphospholipid syndrome, and diffuse angiokeratoma, all of these characterized by endothelial insufficiency.
  • [MeSH-minor] Adolescent. Adult. Antiphospholipid Syndrome / pathology. Fabry Disease / pathology. Female. Humans. Kidney Glomerulus / pathology. Kidney Glomerulus / ultrastructure. Male. Microscopy, Electron, Transmission. Middle Aged. Pregnancy. Skin / pathology. Skin / ultrastructure. Stomach / pathology. Stomach / ultrastructure. Young Adult

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  • (PMID = 19907761.001).
  • [ISSN] 1573-8221
  • [Journal-full-title] Bulletin of experimental biology and medicine
  • [ISO-abbreviation] Bull. Exp. Biol. Med.
  • [Language] eng; rus
  • [Publication-type] Journal Article
  • [Publication-country] United States
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54. Feramisco JD, Fournier JB, Zedek DC, Venna SS: Eruptive angiokeratomas on the glans penis. Dermatol Online J; 2009;15(10):14
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Eruptive angiokeratomas on the glans penis.
  • Angiokeratomas are benign proliferations of dilated thin-walled blood vessels in the upper dermis with overlying epidermal hyperkeratosis.
  • There are several clinical variants of angiokeratomas: 1.
  • Mibelli: hyperkeratotic papules on fingers or toes, solitary, multiple, or circumscriptum (grouped papules usually on an extremity); 4. angiokeratoma corporis diffusum, widespread papules that are a manifestation of one of several inherited lysozomal storage diseases.
  • Herein, we report a rare case of multiple angiokeratomas of Fordyce on the corona of the glans penis.
  • [MeSH-major] Angiokeratoma / pathology. Penile Neoplasms / pathology. Skin Neoplasms / pathology

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  • [ErratumIn] Dermatol Online J. 2010 Sep;16(9):17. Zedek, Daniel C [added]
  • (PMID = 19951632.001).
  • [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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55. Rákóczi E, Görögh S, Grubits J, Erdos M, Garzuly F, Hahn K, Bencsik K, Vécsei L, Trinn C, Kristóf E, Mogyorósy G, Tóth B, Maródi L: [Molecular pathology and clinical manifestations of Fabry disease]. Orv Hetil; 2007 Jun 10;148(23):1087-94
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Molecular pathology and clinical manifestations of Fabry disease].
  • Fabry disease is a rare, progressive lysosomal storage disorder caused by mutation in the GAL gene and an impaired function of the alpha-galactosidase A enzyme.
  • Major clinical manifestations include acroparesthesis, angiokeratoma, corneal opacities, vascular diseases of the heart, kidney, and the central nervous system.
  • In this review the authors describe clinical features of Fabry disease in 31 Hungarian patients.
  • The most common disease-specific manifestation was angiokeratoma in males, and eye symptoms in females.
  • Genotyping was performed in all cases and disease-causing mutations were found in all families.
  • [MeSH-major] Fabry Disease / diagnosis. Fabry Disease / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Angiokeratoma / etiology. Brain Ischemia / etiology. Child. Child, Preschool. Female. Genetic Predisposition to Disease. Heterozygote. Homozygote. Humans. Kidney / pathology. Male. Middle Aged. Proteinuria / etiology

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  • (PMID = 17545117.001).
  • [ISSN] 0030-6002
  • [Journal-full-title] Orvosi hetilap
  • [ISO-abbreviation] Orv Hetil
  • [Language] hun
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Hungary
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56. Happle R: What is a capillary malformation? J Am Acad Dermatol; 2008 Dec;59(6):1077-9

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Examples include nevus anemicus, cutis marmorata telangiectatica congenita, angiokeratoma circumscriptum, and several vascular lesions that, in the author's view, do not represent nevi, such as the nuchal or glabellar salmon patch and the cutaneous changes of Rendu-Osler disease.

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  • (PMID = 19022106.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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57. Mayer V, Maetzke J, Scharffetter-Kochanek K: [Punctate maculae on the back of the hands of a 44-year-old woman]. Hautarzt; 2009 May;60(5):428-32
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Our differential diagnosis includes idiopathic teleangiectases, teleangiectasia eruptiva perstans, angioma serpiginosum and angiokeratoma corporis diffusum Fabry.
  • [MeSH-major] Angiokeratoma / complications. Angiokeratoma / diagnosis. Hand / pathology. Keratosis / diagnosis. Keratosis / etiology. Macula Lutea / pathology. Skin Neoplasms / complications. Skin Neoplasms / diagnosis

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  • (PMID = 19225742.001).
  • [ISSN] 1432-1173
  • [Journal-full-title] Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete
  • [ISO-abbreviation] Hautarzt
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
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58. Wattanasirichaigoon D, Svasti J, Cairns JR, Tangnararatchakit K, Visudtibhan A, Keeratichamroen S, Ngiwsara L, Khowsathit P, Onkoksoong T, Lekskul A, Mongkolsiri D, Jariengprasert C, Thawil C, Ruencharoen S: Clinical and molecular characterization of an extended family with Fabry disease. J Med Assoc Thai; 2006 Sep;89(9):1528-35
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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 molecular characterization of an extended family with Fabry disease.
  • MATERIAL AND METHOD: Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present study.
  • None had angiokeratoma or renal symptoms.
  • CONCLUSION: There were intrafamilial clinical variabilities, but consistent findings of the absence of angiokeratoma and renal symptoms, which could represent a unique feature of this particular mutation.
  • [MeSH-major] Fabry Disease / genetics. Family. alpha-Galactosidase / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Amino Acid Substitution. Angiokeratoma / etiology. Child. Child, Preschool. DNA Mutational Analysis. Female. Humans. Male. Mutation, Missense. Pedigree. Renal Insufficiency / etiology

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  • (PMID = 17100396.001).
  • [ISSN] 0125-2208
  • [Journal-full-title] Journal of the Medical Association of Thailand = Chotmaihet thangphaet
  • [ISO-abbreviation] J Med Assoc Thai
  • [Language] eng
  • [Databank-accession-numbers] OMIM/ 301500
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Thailand
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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59. Berk DR, Lind AC, Bayliss SJ: Acral angiokeratomas in a patient with Turner syndrome. Pediatr Dermatol; 2010 Nov-Dec;27(6):662-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acral angiokeratomas in a patient with Turner syndrome.
  • Angiokeratomas have rarely been reported in patients with Turner syndrome.
  • Biopsy showed acral skin with focal epidermal acanthosis that was centered on a dilated superficial vessel, consistent with an angiokeratoma.
  • [MeSH-major] Angiokeratoma / complications. Angiokeratoma / pathology. Skin Neoplasms / complications. Skin Neoplasms / pathology. Turner Syndrome / complications

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  • [Copyright] © 2010 Wiley Periodicals, Inc.
  • (PMID = 21510021.001).
  • [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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60. Bhat S, Pavithra S, Mallya H, Pai G: Verrucous hemangioma: an optimized surgical approach. J Cutan Aesthet Surg; 2010 Sep;3(3):170-3

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Ten years ago, an excisional biopsy was performed by a surgeon, and a histopathological diagnosis of angiokeratoma was made.

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  • [Cites] J Am Acad Dermatol. 2000 Mar;42(3):516-8 [10688730.001]
  • [Cites] Dermatol Surg. 2002 Oct;28(10):913-19; discussion 920 [12410675.001]
  • [Cites] Br J Plast Surg. 1965 Apr;18:156-63 [14283445.001]
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  • (PMID = 21430831.001).
  • [ISSN] 0974-5157
  • [Journal-full-title] Journal of cutaneous and aesthetic surgery
  • [ISO-abbreviation] J Cutan Aesthet Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC3047736
  • [Keywords] NOTNLM ; Flaps / graft / verrucous hemangioma / wide excision
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61. Weidemann F, Strotmann JM, Breunig F, Niemann M, Maag R, Baron R, Eggert AO, Wanner C: Misleading terms in Anderson-Fabry disease. Eur J Clin Invest; 2008 Mar;38(3):191-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Misleading terms in Anderson-Fabry disease.
  • BACKGROUND: Signs and symptoms of classic Fabry disease manifest itself on the skin (angiokeratoma), the nervous system (acroparaesthesia), the heart (restrictive cardiomyopathy) and a variety of other organs.
  • MATERIALS AND METHODS: Diagnosis of Fabry disease was confirmed by genetic tests in a cohort of 100 patients and a standardized examination programme was performed in all patients.
  • RESULTS: Among the 47 male and 53 female patients (mean age 41 +/- 16 years) with genetically proven disease, the Fabry-type vascular skin lesions were without hyperkeratotic aspect and keratomas were virtually absent.
  • CONCLUSIONS: Our findings suggest that some terms used to describe signs and symptoms of Fabry disease are historically derived and do not comply with state-of-the-art examination.
  • We propose to replace the term 'angiokeratoma' with 'angioma', the term 'acroparaesthesia' with 'neuropathic pain' and the term 'restrictive cardiomyopathy' with 'cardiac hypertrophic storage disease'.
  • As most of the physicians are not familiar with Fabry disease, terms used in the past might prevent the correct diagnosis of a potentially treatable disease.
  • [MeSH-major] Angiokeratoma / diagnosis. Cardiovascular Diseases / diagnosis. Fabry Disease / diagnosis. Paresthesia / diagnosis

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  • (PMID = 18257782.001).
  • [ISSN] 1365-2362
  • [Journal-full-title] European journal of clinical investigation
  • [ISO-abbreviation] Eur. J. Clin. Invest.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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62. Karen JK, Hale EK, Ma L: Angiokeratoma corporis diffusum (Fabry disease). Dermatol Online J; 2005;11(4):8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratoma corporis diffusum (Fabry disease).
  • Fabry disease is an x-linked recessive disorder in which deficiency of the lysosomal enzyme alpha-galactosidase A leads to progressive accumulation of globotriaosylceramide in vital organs.
  • The complexity and rarity of this disease mandates a multidisciplinary approach that includes initiation of enzyme replacement therapy.
  • [MeSH-major] Fabry Disease / pathology. Skin Diseases, Genetic / pathology

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  • (PMID = 16403380.001).
  • [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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63. Lee MW, Lee DK, Choi JH, Moon KC, Koh JK: Clinicopathologic study of cutaneous pseudolymphomas. J Dermatol; 2005 Jul;32(7):594-601
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  • The histologic patterns were diverse, MF-like, perivascular/periadnexal, nodular, diffuse, pseudolymphomatous folliculitis, and acral pseudolymphomatous angiokeratoma of children (APACHE) patterns.

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  • (PMID = 16335878.001).
  • [ISSN] 0385-2407
  • [Journal-full-title] The Journal of dermatology
  • [ISO-abbreviation] J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Japan
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64. Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, Ramaswami U, Parini R, Sunder-Plassman G, Beck M, Mehta AB, FOS Investigators: Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol; 2007 Aug;157(2):331-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease and the skin: data from FOS, the Fabry outcome survey.
  • BACKGROUND: Fabry disease (also known as Anderson-Fabry disease) is a rare, X-linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body.
  • OBJECTIVES: To ascertain the prevalence and nature of cutaneous manifestations in patients with Fabry disease and to relate these to the severity of systemic manifestations of the disease.
  • METHODS: We have documented the dermatological features of this disease with reference to data from 714 patients (345 males, 369 females) registered on the Fabry Outcome Survey (FOS), a multicentre European database.
  • RESULTS: We confirm that the commonest disease manifestation is angiokeratoma.
  • Overall, 78% of males and 50% of females had one or more dermatological abnormality, the commonest being angiokeratoma (66% males, 36% females), hypohidrosis (53% males, 28% females), telangiectasia (23% males, 9% females) and lymphoedema (16% males, 6% females).
  • We demonstrate for the first time that the presence of cutaneous vascular lesions correlates with the severity of the systemic manifestations of the disease (pain, renal failure, cardiac disease, premature cerebrovascular disease) as assessed by a severity scoring system.
  • CONCLUSIONS: The FOS database is a useful epidemiological tool in establishing the variety and relevance of cutaneous manifestations in Fabry disease.
  • The present study confirms that the presence of dermatological manifestations appears to be a marker of greater severity of systemic disease, which emphasizes the importance of the dermatological assessment of these patients.
  • [MeSH-major] Fabry Disease / complications. Skin Diseases / etiology
  • [MeSH-minor] Adolescent. Adult. Age Factors. Angiokeratoma / epidemiology. Angiokeratoma / etiology. Angiokeratoma / pathology. Child. Europe / epidemiology. Female. Humans. Hypohidrosis / epidemiology. Hypohidrosis / etiology. Lymphedema / epidemiology. Lymphedema / etiology. Male. Middle Aged. Prevalence. Severity of Illness Index. Sex Factors. Skin Neoplasms / epidemiology. Skin Neoplasms / etiology. Skin Neoplasms / pathology. Telangiectasis / epidemiology. Telangiectasis / etiology. Telangiectasis / pathology


65. Kobayashi M, Ohashi T, Sakuma M, Ida H, Eto Y: Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease. J Inherit Metab Dis; 2008 Dec;31 Suppl 3:483-7

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease.
  • Fabry disease is an X linked lysosomal storage disorder resulting from deficiency of α-galactosidase A activity.
  • Although disease manifestations in heterozygous females with Fabry disease have been considered to be rare and mild, heterozygous patients with severe symptoms have recently been reported.
  • In this study we focused on the clinical characteristics of Japanese females patients with Fabry disease and analysed data from 36 women.
  • Data on clinical manifestations such as acroparaesthesia, hypohidrosis, angiokeratoma, corneal opacities, proteinuria, end-stage renal disease (ESRD), left ventricular hypertrophy (LVH) and cerebral infarction were obtained by questionnaire; these analysed by the Kaplan-Meier method and compared with the data from Japanese male patients.
  • Eighty-six per cent of female patients had at least one clinical sign of Fabry disease.
  • The cumulative incidences of angiokeratoma, corneal opacities, proteinuria, ESRD, LVH and cerebral infarction were significantly lower in female than in male patients.
  • We consider that the term X-linked 'recessive' is inappropriate for Fabry disease because of the high prevalence of its pathognomonic signs in heterozygous female patients.
  • Careful and long-term evaluation of clinical signs is important in heterozygous females patients with Fabry disease.

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  • (PMID = 18202903.001).
  • [ISSN] 0141-8955
  • [Journal-full-title] Journal of inherited metabolic disease
  • [ISO-abbreviation] J. Inherit. Metab. Dis.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
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66. Ben Turkia H, Tebib N, Azzouz H, Abdelmoula MS, Bouguila J, Sanhaji H, Miladi N, Maire I, Caillaud C, Kaabachi N, Ben Dridi MF: Phenotypic spectrum of fucosidosis in Tunisia. J Inherit Metab Dis; 2008 Dec;31 Suppl 2:S313-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • This distinction was determined by the presence or absence of angiokeratoma and age of death.
  • Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9 cases), visceromegaly (3 cases), angiokeratoma corporis diffusum (4 cases), recurrent bronchopneumonias (all cases), seizures (4 cases) and variable degrees of dysostosis multiplex (all cases).
  • [MeSH-minor] Angiokeratoma / epidemiology. Cause of Death. Child Development. Child, Preschool. Developmental Disabilities / epidemiology. Female. Health Surveys. Humans. Infant. Male. Nervous System Diseases / epidemiology. Phenotype. Prognosis. Severity of Illness Index. Skin Neoplasms / epidemiology. Time Factors. Tunisia / epidemiology

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  • (PMID = 18651239.001).
  • [ISSN] 1573-2665
  • [Journal-full-title] Journal of inherited metabolic disease
  • [ISO-abbreviation] J. Inherit. Metab. Dis.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
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67. Cochat P, Liutkus A, Dubourg L, Levade T: [Current management of Fabry disease]. Nephrol Ther; 2006 Jan;2 Suppl 2:S167-71
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Current management of Fabry disease].
  • Fabry disease is a rare X-linked lysosomal storage disease leading to systemic involvement, mainly through GL-3 endothelial deposition.
  • Initial symptoms may occur during childhood (acroparesthesia, angiokeratoma), prior to adulthood complications, i.e. renal, ocular, cerebral, neurological and cardiovascular involvement.
  • An early diagnosis of the disease may be challenging because of a frequent atypical clinical presentation.
  • [MeSH-major] Fabry Disease / therapy. Genetic Therapy. alpha-Galactosidase / therapeutic use

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  • (PMID = 17373218.001).
  • [ISSN] 1769-7255
  • [Journal-full-title] Néphrologie & thérapeutique
  • [ISO-abbreviation] Nephrol. Ther.
  • [Language] fre
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Enzyme Inhibitors; 0 / Recombinant Proteins; EC 3.2.1.22 / alpha-Galactosidase; EC 3.2.1.45 / Glucosylceramidase
  • [Number-of-references] 30
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68. Kotnik J, Kotnik F, Desnick RJ: Fabry disease. A case report. Acta Dermatovenerol Alp Pannonica Adriat; 2005 Mar;14(1):15-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease. A case report.
  • Fabry disease is an under-recognized X-linked recessive lysosomal storage disorder resulting from the deficient activity of the enzyme alpha-galactosidase A (alpha-Gal A).
  • The first case of Fabry disease in Slovenia was diagnosed in 1991.
  • The diagnosis of angiokeratoma corporis diffusa (Fabry disease) was made clinically and confirmed by demonstration of the deficient leukocyte alpha-Gal A activity.
  • The patient subsequently developed cerebrovascular symptoms, coronary disease, and renal failure, and died from a recurrent myocardial infarction.
  • This case illustrates the typical multi-manifestations of this inherited disease which now can be safely and effectively treated by enzyme replacement therapy.
  • Early diagnosis is important for the most effective treatment of this disease.
  • [MeSH-major] Fabry Disease / complications. Fabry Disease / diagnosis. Kidney Failure, Chronic / etiology. Myocardial Infarction / etiology. Proteinuria / etiology
  • [MeSH-minor] Disease Progression. Fatal Outcome. Humans. Male. Middle Aged. Time Factors. alpha-Galactosidase / genetics

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  • (PMID = 15818441.001).
  • [ISSN] 1318-4458
  • [Journal-full-title] Acta dermatovenerologica Alpina, Pannonica, et Adriatica
  • [ISO-abbreviation] Acta Dermatovenerol Alp Pannonica Adriat
  • [Language] eng
  • [Grant] United States / NCRR NIH HHS / RR / 5 M01 RR00071; United States / NIDDK NIH HHS / DK / R29 DK 34045
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] Slovenia
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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69. Buljan M, Poduje S, Situm M, Bulat V, Bolanča Z, Tomas D: Multiple angiokeratomas of the vulva: case report and literature review. Acta Dermatovenerol Croat; 2010;18(4):271-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple angiokeratomas of the vulva: case report and literature review.
  • Angiokeratomas of the vulva are relatively rare finding and a limited number of cases have been reported in the literature.
  • Clinically, angiokeratomas of the vulva are benign vascular lesions usually occurring in middle-aged or older women.
  • Histopathologic analysis of the lesion confirmed the diagnosis of angiokeratoma, and all lesions were electrocauterized under local anesthesia.
  • Therefore, dermatovenereologists should be aware of angiokeratomas and respective therapeutic options when examining a patient with pruritic, painful, or bleeding lesions in the genital region.
  • [MeSH-major] Angiokeratoma / diagnosis. Skin Neoplasms / diagnosis. Vulvar Neoplasms / diagnosis

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  • (PMID = 21251446.001).
  • [ISSN] 1847-6538
  • [Journal-full-title] Acta dermatovenerologica Croatica : ADC
  • [ISO-abbreviation] Acta Dermatovenerol Croat
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Croatia
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70. Tsuboi K: Enzyme replacement therapy in patients with Fabry's disease. J Int Med Res; 2007 Jul-Aug;35(4):574-81

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Enzyme replacement therapy in patients with Fabry's disease.
  • Fabry's disease, a disorder affecting the gene for the lysosomal enzyme alpha-galactosidase A (alpha-GAL A), can cause accumulation of globotriaosylceramide (GL-3) in the vascular endothelial cells.
  • Symptoms include pain, angiokeratoma, corneal clouding, and damage to the heart and kidneys.
  • Eleven ambulatory patients with Fabry's disease were given replacement alpha-GAL A therapy.
  • Three patients died due to factors associated with Fabry's disease.
  • Although careful observation is necessary, these results suggest that replacement alpha-GAL A therapy may be a safe and effective treatment of Fabry's disease.
  • [MeSH-major] Fabry Disease. alpha-Galactosidase / therapeutic use

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  • (PMID = 17697536.001).
  • [ISSN] 0300-0605
  • [Journal-full-title] The Journal of international medical research
  • [ISO-abbreviation] J. Int. Med. Res.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Recombinant Proteins; EC 3.2.1.22 / alpha-Galactosidase
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71. Rozenfeld PA: Fabry disease: treatment and diagnosis. IUBMB Life; 2009 Nov;61(11):1043-50
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease: treatment and diagnosis.
  • Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme alpha-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues.
  • Classical Fabry disease affects various organs.
  • Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever.
  • The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear.
  • Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease.
  • Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms.
  • An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy.
  • [MeSH-major] Enzyme Replacement Therapy. Fabry Disease / diagnosis. Fabry Disease / therapy. alpha-Galactosidase / therapeutic use

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  • (PMID = 19859978.001).
  • [ISSN] 1521-6551
  • [Journal-full-title] IUBMB life
  • [ISO-abbreviation] IUBMB Life
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Trihexosylceramides; 71965-57-6 / globotriaosylceramide; EC 3.2.1.22 / alpha-Galactosidase
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72. Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T: Beta-mannosidosis: a new cause of spinocerebellar ataxia. Clin Neurol Neurosurg; 2009 Jan;111(1):109-10
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • This autosomal recessive disorder is characterized by a wide range of symptoms including mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly.


73. Kouris NT, Kontogianni DD, Pavlou MT, Babalis DK: Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement. Int J Cardiol; 2005 Mar 18;99(2):327-8

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement.
  • A 30 year-old male patient with a history of Fabry's disease, was referred to hospital with symptoms of dizziness, hypotension and weakness.
  • Fabry's disease had been diagnosed 2 years before, based on angiokeratoma and hypohidrosis on physical examination and complete lack of alpha-galactosidase A on laboratory examination.
  • It can therefore be concluded that even young patients with Fabry's disease and normal echocardiograms might develop cardiac symptoms due to AV conduction abnormalities.
  • [MeSH-major] Atrioventricular Node / physiopathology. Bradycardia / etiology. Fabry Disease / complications

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  • (PMID = 15749195.001).
  • [ISSN] 0167-5273
  • [Journal-full-title] International journal of cardiology
  • [ISO-abbreviation] Int. J. Cardiol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Ireland
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74. Mendióroz M, Fernández-Cadenas I, Montaner J: [Neurological manifestations of Fabry disease]. Rev Neurol; 2006 Dec 16-31;43(12):739-45
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Neurological manifestations of Fabry disease].
  • AIM: To present a review of the neurological manifestations, diagnosis and treatment of Fabry disease.
  • DEVELOPMENT: Fabry disease is a hereditary deficiency of lisosomal alpha-galactosidase A resulting in accumulation of globotriaosylceramide in vascular endothelium and smooth-muscle cells.
  • Neurological manifestations include severe attacks of neuropathic pain and acroparesthesias at early age and small-vessel occlusive disease in adults.
  • Other manifestations are renal dysfunction, cardiomyopathy, abdominal pain, deafness, angiokeratoma and corneal opacity.
  • Cerebrovascular involvement results from small-arteries lipid deposition, impairment in cerebrovascular reactivity, vertebrobasilar ectasia as well as vascular risk factors such as nephrogenic hypertension and cardiac disease.
  • Fabry disease prevalence seems to be higher than previously described and currently many patients might be underdiagnosed.
  • CONCLUSIONS: Fabry disease must be included in the differential diagnosis of stroke in young people, particularly in those with criptogenic etiology, vertebrobasilar location and renal dysfunction.
  • [MeSH-major] Fabry Disease / complications. Nervous System Diseases / etiology

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  • [CommentIn] Neurologia. 2014 Sep;29(7):442-3 [23582745.001]
  • (PMID = 17160925.001).
  • [ISSN] 0210-0010
  • [Journal-full-title] Revista de neurologia
  • [ISO-abbreviation] Rev Neurol
  • [Language] spa
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Spain
  • [Chemical-registry-number] 0 / Isoenzymes; 0 / Recombinant Proteins; EC 3.2.1.- / agalsidase alfa; EC 3.2.1.- / agalsidase beta; EC 3.2.1.22 / alpha-Galactosidase
  • [Number-of-references] 53
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75. He JQ, Han ZH, Ren XJ, Gao YC, Zhang XL, Jiang TY: [The clinical characteristics of 5 patients with inherited hypertrophic cardiomyopathy]. Zhonghua Xin Xue Guan Bing Za Zhi; 2009 Apr;37(4):320-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • One male patient with clinicopathological features of early onset, muscle weakness, ventricular preexcitation, elevations of two serum proteins and intracytoplasmic vacuoles containing autophagic material and glycogen in biceps brachial muscle cells was diagnosed Danon's disease.
  • Three patients were diagnosed as Fabry's disease with clinical characteristics including pain and acroparesthesias, angiokeratoma and decrease of alpha-galactosidase A activity.

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  • (PMID = 19791467.001).
  • [ISSN] 0253-3758
  • [Journal-full-title] Zhonghua xin xue guan bing za zhi
  • [ISO-abbreviation] Zhonghua Xin Xue Guan Bing Za Zhi
  • [Language] chi
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] China
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76. Astner S, González S, Cuevas J, Röwert-Huber J, Sterry W, Stockfleth E, Ulrich M: Preliminary evaluation of benign vascular lesions using in vivo reflectance confocal microscopy. Dermatol Surg; 2010 Jul;36(7):1099-110
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • MATERIALS AND METHODS: Seven patients with a clinical diagnosis of vascular lesion, including spider angioma, venous lake, cherry angioma, pyogenic granuloma, port wine stain, angiokeratoma, and lymphangioma, participated in this study.

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  • (PMID = 20653723.001).
  • [ISSN] 1524-4725
  • [Journal-full-title] Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
  • [ISO-abbreviation] Dermatol Surg
  • [Language] eng
  • [Publication-type] Controlled Clinical Trial; Journal Article
  • [Publication-country] United States
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77. Turkmen M, Kavukçu S, Çakmakci H, Soylu A, Aktan S, Çağan Y: A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge. Int Urol Nephrol; 2010 Sep;42(3):575-8
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  • We present a girl of KTWS associated with hypertrophied left kidney, enlargement in venous structures of the left kidney, recurrent bloody vaginal discharge and angiokeratomas.
  • Angiokeratoma may be considered as a dermatological finding of KTWS.

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  • (PMID = 19768566.001).
  • [ISSN] 1573-2584
  • [Journal-full-title] International urology and nephrology
  • [ISO-abbreviation] Int Urol Nephrol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
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78. Zhang SH, Liu ZH, Zeng CH, Li SJ, Chen HP, Su J, Li LS: Fabry disease: renal biopsy-proven cases from China. J Nephrol; 2007 Nov-Dec;20(6):716-26
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease: renal biopsy-proven cases from China.
  • BACKGROUND: Fabry disease is a rare metabolic disorder resulting from deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-GalA).
  • Extrarenal manifestations, including acroparesthesia, hypohidrosis, abnormal electrocardiography and angiokeratoma were noted.
  • We identified a novel missense mutation (F273L) causing nonclassical Fabry disease.
  • CONCLUSIONS: Fabry disease is relatively rare in China.
  • Renal biopsy and specific staining is efficacious in the correct diagnosis of the disease.
  • Discrepancies in the clinical manifestations of Fabry disease (i.e., eye disorders and hypertension) exist between cases found in China and those detailed in Western reports.
  • [MeSH-major] Fabry Disease / pathology. Kidney Glomerulus / pathology

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  • (PMID = 18046674.001).
  • [ISSN] 1121-8428
  • [Journal-full-title] Journal of nephrology
  • [ISO-abbreviation] J. Nephrol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Italy
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79. Navarro C, Teijeira S, Dominguez C, Fernandez JM, Rivas E, Fachal C, Barrera S, Rodriguez C, Iranzo P: Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients. Acta Neuropathol; 2006 Feb;111(2):178-85
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  • [Title] Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients.
  • Fabry disease is a rare X-linked lysosomal storage disorder due to alpha galactosidase A deficiency, better known after the advent of a promising treatment, a periodical enzyme replacement.
  • As other hereditary X-linked disorders, females have historically been considered non-affected carriers, although they are, actually, clinically and pathologically affected to a variable degree.
  • Some women are asymptomatic, but the majority present milder forms of the disease and later onset.
  • This wide range of disease expression is supposed to be related to the levels of enzymatic activity, probably in accordance with a skewing of X inactivation.
  • Lysosomal deposits of ceramide trihexoside have been repeatedly documented in a wide range of tissues, including those found in angiokeratoma, the characteristic cutaneous lesion which allowed the definition of Fabry disease.
  • For that purpose, with electron microscopy and quantitative methods, we studied the extent of lysosomal deposits in dermal fibroblasts of normal-appearing skin in six females and nine men, enzymatically and genetically proven as to have Fabry disease, and results were compared.
  • [MeSH-major] Fabry Disease / genetics. Fabry Disease / pathology. Heterozygote. Skin / ultrastructure

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  • (PMID = 16463201.001).
  • [ISSN] 0001-6322
  • [Journal-full-title] Acta neuropathologica
  • [ISO-abbreviation] Acta Neuropathol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Glycosphingolipids; EC 3.2.1.22 / alpha-Galactosidase
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80. Kuzman T, Juri J, Mrsić M, Jeren-Strujić B, Mandić Z, Sikić J: [Ocular findings in Fabry's disease]. Acta Med Croatica; 2006;60(2):163-6
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  • [Title] [Ocular findings in Fabry's disease].
  • INTRODUCTION: Fabry's disease is a recessive X-linked disorder that results from a deficiency of the lysosomal hydrolase a-galactosidase A (alpha-Gal A).
  • Subsequently, angiokeratoma and ocular signs develop until, in most cases after the third decade of life, severe renal dysfunction or cardiomyopathy becomes obvious.
  • Recently, enzyme replacement therapy has been shown to be an effective treatment modality that can eliminate glycolipid stores and reverse the disease pathology.
  • During further evaluation nephrologist suspected Fabry's disease, because patient had skin changes early referred as petechiae, and acroparesthesias.
  • Physical status: angiokeratoma on gluteat regions and upper arms.
  • Heart ultrasound: low mitral regurgitation angio stage 1, left ventricle hypertrophy.
  • CONCLUSION: Fabry's disease occurs in all ethnic groups.
  • It is estimated that one in 200 people is a carrier, and one in 40,000-100,000 has the disease.
  • Today in Croatia, Fabry's disease has been diagnosed in only one patient, and according to the usual prevalence there are still 45-100 unrecognized patients.
  • The ophthalmologists are in excellent position to diagnose Fabry's disease in early stages.
  • Therefore it is very important that the ophthalmologists in Croatia become aware of the importance of ocular findings in Fabry's disease, so they can participate in the identification of unrecognized patients.
  • [MeSH-major] Eye Diseases / complications. Fabry Disease / complications

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  • (PMID = 16848212.001).
  • [ISSN] 1330-0164
  • [Journal-full-title] Acta medica Croatica : c̆asopis Hravatske akademije medicinskih znanosti
  • [ISO-abbreviation] Acta Med Croatica
  • [Language] hrv
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Croatia
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81. Hoffmann B, Mayatepek E: Fabry disease-often seen, rarely diagnosed. Dtsch Arztebl Int; 2009 Jun;106(26):440-7
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  • [Title] Fabry disease-often seen, rarely diagnosed.
  • BACKGROUND: Data obtained from screened newborns and from persons at known risk for Fabry disease suggest that this condition is much more common in Germany than previously assumed.
  • Thus, there is often a delay before the diagnosis of Fabry disease is established.
  • RESULTS: The number of patients carrying the diagnosis of Fabry disease in Germany lies far below what would be expected from published prevalence figures from other countries.
  • Angiokeratoma, acroparesthesia, hypertrophic cardiomyopathy, impaired sweating and corneal opacification (cornea verticillata) are typical manifestations of Fabry disease; many patients also have other, nonspecific complaints, such as gastrointestinal disturbances.
  • Studies involving large groups of patients have improved our understanding of hearing impairment and tinnitus in Fabry disease.
  • CONCLUSIONS: Fabry disease is still underdiagnosed.
  • Treatment with human alpha-galactosidase A produced with genetic technology can improve most of the disease's manifestations.
  • [MeSH-major] Diagnostic Errors / prevention & control. Fabry Disease / diagnosis. Fabry Disease / therapy

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  • (PMID = 19623315.001).
  • [ISSN] 1866-0452
  • [Journal-full-title] Deutsches Ärzteblatt international
  • [ISO-abbreviation] Dtsch Arztebl Int
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 72
  • [Other-IDs] NLM/ PMC2704393
  • [Keywords] NOTNLM ; Fabry disease / diagnosis / enzyme substitution / lysosomal storage disease / molecular medicine
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82. Vibert D, Blaser B, Ozdoba C, Häusler R: Fabry's disease: otoneurologic findings in twelve members of one family. Ann Otol Rhinol Laryngol; 2006 Jun;115(6):412-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry's disease: otoneurologic findings in twelve members of one family.
  • Fabry's disease corresponds to an inherited disorder transmitted by an X-linked recessive gene.
  • They appear during childhood or adolescence: acroparesthesia, joint pain, angiokeratoma, corneal dystrophy, hypohydrosis or anhydrosis, and renal failure.
  • [MeSH-major] Fabry Disease / genetics. Family. Hearing Loss / complications. Meniere Disease / complications. Tinnitus / complications. Vertigo / complications
  • [MeSH-minor] Adult. Aged. Electronystagmography. Female. Genetic Predisposition to Disease. Genotype. Humans. Magnetic Resonance Imaging. Male. Middle Aged. Nystagmus, Pathologic / complications. Nystagmus, Pathologic / genetics. Nystagmus, Pathologic / physiopathology. Pedigree

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  • (PMID = 16805371.001).
  • [ISSN] 0003-4894
  • [Journal-full-title] The Annals of otology, rhinology, and laryngology
  • [ISO-abbreviation] Ann. Otol. Rhinol. Laryngol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
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83. Al Dhaybi R, Powell J, McCuaig C, Kokta V: Differentiation of vascular tumors from vascular malformations by expression of Wilms tumor 1 gene: evaluation of 126 cases. J Am Acad Dermatol; 2010 Dec;63(6):1052-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • METHODS: Based on the International Society for the Study of Vascular Anomalies classification of vascular anomalies, we studied the expression of WT1 in vascular tumors composed of infantile hemangioma, congenital hemangiomas (non-involuting, rapidly involuting, and not otherwise specified), pyogenic granuloma, tufted angioma, cherry angioma, Kaposi sarcoma, and angiosarcoma.
  • We also studied WT1 expression in vascular malformations composed of angiokeratoma/verrucous hemangioma, combined vascular malformations, venous malformations, glomuvenous malformations, lymphatic malformations/lymphangioma, telangiectasia, and targetoid hemosiderotic hemangioma.

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  • [Copyright] Copyright © 2009 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.
  • (PMID = 21093662.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Nuclear Proteins; 0 / WTAP protein, human
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84. Uyama E: [Fabry disease in light of recent review]. Brain Nerve; 2008 Nov;60(11):1235-44
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Fabry disease in light of recent review].
  • Fabry disease is a lysosomal storage disorder that is caused by mutations in the gene encoding a-galactosidase A on Xq22.1.
  • Typically hemizygous male patients exhibit classic phenotypes such as angiokeratoma, acroparesthesias, episodic pain "crises," hypohidrosis, and whorl-shaped corneal opacities from childhood.
  • However, during adulthood, they gradually develop kidney failure, heart disease, and strokes resulting in early death between 40 to 50 years of age.
  • Patients having the cardiac variant of Fabry's disease exhibit only left ventricular hypertrophy, while patients having the renal variant exhibit only kidney failure.
  • Individuals affected by these variants show higher residual enzyme activity of alpha-galactosidase A than individuals affected by the classic form of Fabry's disease due to missense mutations of the GLA gene.
  • The cerebrovascular involvement in Fabry disease is not rare in both adult hemizygotes and heterozygotes.
  • [MeSH-major] Fabry Disease. Mutation, Missense. alpha-Galactosidase / genetics

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  • (PMID = 19069157.001).
  • [ISSN] 1881-6096
  • [Journal-full-title] Brain and nerve = Shinkei kenkyū no shinpo
  • [ISO-abbreviation] Brain Nerve
  • [Language] jpn
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Isoenzymes; EC 3.2.1.- / agalsidase alfa; EC 3.2.1.- / agalsidase beta; EC 3.2.1.22 / alpha-Galactosidase
  • [Number-of-references] 65
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85. Cybulla M, Walter K, Neumann HP, Widmer U, Schärer M, Sunder-Plassmann G, Jansen T, Rolfs A, Beck M: [Fabry disease: demographic data since introduction of enzyme replacement therapy]. Dtsch Med Wochenschr; 2007 Jul 5;132(28-29):1505-9
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  • [Title] [Fabry disease: demographic data since introduction of enzyme replacement therapy].
  • BACKGROUND AND OBJECTIVE: Fabry's disease is a rare, X-chromosome linked recessive lysosomal storage disorder.
  • The disease not only markedly impairs the quality of life but also shortens life expectancy if untreated.
  • As it is a rare and not widely known disease with considerable variability of its symptoms it is often not or only belatedly diagnosed.
  • It was the aim of this study to analyse the demography and clinical expression of the disease.
  • PATIENTS AND METHODS: Data were obtained from the Fabry Outcome Survey (FOS), a Europe-wide data bank for the documentation of the disease's clinical course, on 262 patients (130 males, 132 females; mean age 37.5 and 34 years, respectively on entry in the FOS) in Germany, Switzerland and Austria.
  • RESULTS: Typical symptoms - acroparesthesias, joint pain, hypohidrosis, fever and angiokeratoma - have their onset in childhood (mean age nine years).
  • Main causes of morbidity and death in Fabry's disease are involvement of the kidneys or heart, the one or other occurring in 75% of patients.
  • CONCLUSIONS: It is of great importance for the prognosis and quality that Fabry's disease is diagnosed as early as possible and treated adequately before the onset of organ damage.
  • If the listed symptoms by themselves remain unexplained, Fabry's disease should be considered in the differential diagnosis.
  • National and international observational studies, such as the FOS, significantly contribute to gaining important clinical data on this heterogeneous disease.
  • [MeSH-major] Fabry Disease / drug therapy. Fabry Disease / epidemiology

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  • (PMID = 17607649.001).
  • [ISSN] 1439-4413
  • [Journal-full-title] Deutsche medizinische Wochenschrift (1946)
  • [ISO-abbreviation] Dtsch. Med. Wochenschr.
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Germany
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86. Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder-Plassmann G, Widmer U, Beck M, FOS European Investigators: Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr; 2006 Jan;95(1):86-92
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  • [Title] Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.
  • BACKGROUND: Fabry disease is a rare X-linked disorder caused by deficient activity of the enzyme alpha-galactosidase A.
  • AIM: Here, we present the clinical manifestations of Fabry disease in children enrolled in FOS--the Fabry Outcome Survey--a European database of the natural history of Fabry disease and the effects of enzyme replacement therapy with agalsidase alfa (Replagal).
  • RESULTS: The most frequent early clinical manifestations of Fabry disease were neurological (acroparaesthesiae, altered temperature sensitivity) and gastrointestinal symptoms (altered bowel habits and abdominal pain), which were documented in about 80% and 60% of patients, respectively, at the time of evaluation and subsequent entry into FOS.
  • Tinnitus, vertigo, fatigue and angiokeratoma were present in over 40% of patients.
  • CONCLUSION: Although the life-threatening complications of Fabry disease, such as stroke and renal and heart failure, are not seen in children, the present analysis shows that other symptoms are common and may have an impact on quality of life.
  • [MeSH-major] Fabry Disease / physiopathology

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  • (PMID = 16498740.001).
  • [ISSN] 0803-5253
  • [Journal-full-title] Acta paediatrica (Oslo, Norway : 1992)
  • [ISO-abbreviation] Acta Paediatr.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Norway
  • [Chemical-registry-number] 0 / Isoenzymes; EC 3.2.1.- / agalsidase alfa; EC 3.2.1.22 / alpha-Galactosidase
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87. Auray-Blais C, Millington DS, Young SP, Clarke JT, Schiffmann R: Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J Inherit Metab Dis; 2009 Apr;32(2):303-8
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  • [Title] Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.
  • Fabry disease is a complex, multisystemic and clinically heterogeneous disease with prominent urinary excretion of globotriaosylceramide (Gb(3)), the principal substrate of the deficient enzyme, alpha-galactosidase A.
  • Incidence estimations of Fabry disease vary widely from 1:55 000 to 1:3000 male births.
  • The true incidence is likely to be higher than originally thought, owing to the existence of milder variants of the disease.
  • The main complications of Fabry disease are a 100-fold increased risk of ischaemic stroke, cardiac disease, a wide variety of arrhythmias, valvular dysfunction and cardiac vascular disease, as well as progressive renal failure usually associated with significant proteinuria.
  • These clinical manifestations are non-specific and are often mistaken for symptoms of other disorders, thus complicating the confirmation of diagnosis.
  • Other clinical features of the disease are often absent (angiokeratoma), subtle (corneal opacities and hypohidrosis), or unaccompanied by specific physical findings (acroparaesthesias) indicating the true nature of the underlying disease.
  • This hypothesis may be tested by a non-invasive high-risk screening protocol for Fabry patients with ischaemic strokes and a variety of cardiac, and renal complications.
  • [MeSH-major] Fabry Disease / diagnosis. Kidney Diseases / diagnosis. Vascular Diseases / diagnosis

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  • (PMID = 19169844.001).
  • [ISSN] 1573-2665
  • [Journal-full-title] Journal of inherited metabolic disease
  • [ISO-abbreviation] J. Inherit. Metab. Dis.
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Trihexosylceramides; 71965-57-6 / globotriaosylceramide; EC 3.2.1.22 / alpha-Galactosidase
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88. Müller MJ, Müller KM, Dascalescu A, Whybra C, Baron K, Scheurich A, Mann K, Beck M, Schmidt LG, Fellgiebel A: [Psychiatric and neuropsychological signs and symptoms in patients with fabry disease: literature review]. Fortschr Neurol Psychiatr; 2005 Nov;73(11):687-93
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  • [Title] [Psychiatric and neuropsychological signs and symptoms in patients with fabry disease: literature review].
  • Fabry Disease (FD) is an X-linked lysosomal storage disorder (prevalence about 1 : 100 000) caused by a genetic defect associated with a lack of alpha-galactosidase A (alpha-GAL) enzyme activity.
  • The most prominent symptoms comprise pain attacks and acroparesthesia, angiokeratoma, corneal opacity, renal and cardiac dysfunction, hypo- and anhidrosis, gastrointestinal symptoms, and cerebrovascular dysfunction with vertigo, headache, and cerebral ischemia.
  • Since 2001 two enzyme replacement therapies are approved which can possibly stop the disease progress and alleviate symptoms.
  • [MeSH-major] Fabry Disease / psychology. Neuropsychological Tests

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  • (PMID = 16283613.001).
  • [ISSN] 0720-4299
  • [Journal-full-title] Fortschritte der Neurologie-Psychiatrie
  • [ISO-abbreviation] Fortschr Neurol Psychiatr
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Recombinant Proteins; EC 3.2.1.22 / alpha-Galactosidase
  • [Number-of-references] 44
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89. Chedraoui A, Malek J, Tamraz H, Zaynoun S, Kibbi AG, Ghosn S: Acral pseudolymphomatous angiokeratoma of children in an elderly man: report of a case and review of the literature. Int J Dermatol; 2010 Feb;49(2):184-8
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] Acral pseudolymphomatous angiokeratoma of children in an elderly man: report of a case and review of the literature.
  • Acral pseudolymphomatous angiokeratoma of children (APACHE) is clinically characterized by angiomatous papules that preferentially affect acral areas of children.
  • It is currently believed to be a variant of pseudolymphoma rather than angiokeratoma.
  • [MeSH-major] Angiokeratoma / pathology. Pseudolymphoma / pathology. Skin Neoplasms / pathology

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  • (PMID = 20465644.001).
  • [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] 17
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90. Germain DP: Fabry disease. Orphanet J Rare Dis; 2010;5:30
Genetic Alliance. consumer health - Fabry Disease.

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  • [Title] Fabry disease.
  • Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity.
  • FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease.
  • Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease while heterozygous females have symptoms ranging from very mild to severe.
  • A disease-specific therapeutic option - enzyme replacement therapy using recombinant human α-galactosidase A - has been recently introduced and its long term outcome is currently still being investigated.
  • End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life-expectancy of untreated males and females with reductions of 20 and 10 years, respectively, as compared to the general population.
  • While there is increasing evidence that long-term enzyme therapy can halt disease progression, the importance of adjunctive therapies should be emphasized and the possibility of developing an oral therapy drives research forward into active site specific chaperones.
  • [MeSH-major] Fabry Disease. alpha-Galactosidase / genetics

  • Genetic Alliance. consumer health - BabyFirstTest - Fabry Disease.
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  • (PMID = 21092187.001).
  • [ISSN] 1750-1172
  • [Journal-full-title] Orphanet journal of rare diseases
  • [ISO-abbreviation] Orphanet J Rare Dis
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
  • [Other-IDs] NLM/ PMC3009617
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91. Gao J, Li C, Liu L, Gao T: Nevus lipomatosus cutaneous superficialis with angiokeratoma. Int J Dermatol; 2007 Jun;46(6):611-2
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] Nevus lipomatosus cutaneous superficialis with angiokeratoma.
  • [MeSH-major] Angiokeratoma / pathology. Skin Neoplasms / pathology

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  • (PMID = 17550561.001).
  • [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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92. Nomelini RS, Pansani PL, Guimarães PD, Martins-Filho A, Barcelos AC, Murta EF: Vulvar angiokeratoma. J Obstet Gynaecol; 2010 May;30(4):418-9
MedlinePlus Health Information. consumer health - Vulvar Cancer.

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  • [Title] Vulvar angiokeratoma.
  • [MeSH-major] Angiokeratoma / pathology. Skin Neoplasms / pathology. Vulva / pathology. Vulvar Neoplasms / pathology

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  • (PMID = 20455737.001).
  • [ISSN] 1364-6893
  • [Journal-full-title] Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
  • [ISO-abbreviation] J Obstet Gynaecol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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93. Saha M, Barlow R, Bunker CB: Angiokeratoma circumscriptum of the penis. Br J Dermatol; 2006 Apr;154(4):775-6
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  • [Title] Angiokeratoma circumscriptum of the penis.
  • [MeSH-major] Angiokeratoma / pathology. Penile Neoplasms / pathology. Skin Neoplasms / pathology

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  • (PMID = 16536830.001).
  • [ISSN] 0007-0963
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
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94. Namazi MR, Maghsoodi M: Association of angiokeratoma of the vulva with angioma serpiginosum. J Drugs Dermatol; 2008 Sep;7(9):882-3
MedlinePlus Health Information. consumer health - Vulvar Cancer.

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  • [Title] Association of angiokeratoma of the vulva with angioma serpiginosum.
  • Angiokeratoma of the vulva is an uncommon lesion occurring in older women.
  • [MeSH-major] Angiokeratoma / pathology. Hemangioma / pathology. Vulvar Neoplasms / pathology

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  • (PMID = 19112804.001).
  • [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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95. Kudumija B, Mrsić M, Dits S, Matijević V, Thune S, Bozina K: [Classical type of Fabry disease without angiokeratomas--a case report]. Lijec Vjesn; 2007 Dec;129(12):396-400
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  • [Title] [Classical type of Fabry disease without angiokeratomas--a case report].
  • [Transliterated title] Klasicni oblik Fabryjeve bolesti bez angiokeratoma--prikaz bolesnika.
  • A patient with classical type of Fabry disease is described.
  • Characteristic changes in head shape and changes of hands and fingers are the additional phenotypic characteristics of Fabry disease.
  • Enzyme replacement therapy administered in the early phase of the disease could prevent disease complications and early patient's death.
  • [MeSH-major] Fabry Disease / diagnosis
  • [MeSH-minor] Adult. Angiokeratoma / complications. Humans. Male. Skin Neoplasms / complications

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  • (PMID = 18383742.001).
  • [ISSN] 0024-3477
  • [Journal-full-title] Lijec̆nic̆ki vjesnik
  • [ISO-abbreviation] Lijec Vjesn
  • [Language] hrv
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Croatia
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96. Zaballos P, Daufí C, Puig S, Argenziano G, Moreno-Ramírez D, Cabo H, Marghoob AA, Llambrich A, Zalaudek I, Malvehy J: Dermoscopy of solitary angiokeratomas: a morphological study. Arch Dermatol; 2007 Mar;143(3):318-25
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  • [Title] Dermoscopy of solitary angiokeratomas: a morphological study.
  • OBJECTIVES: To describe the dermoscopic structures and patterns associated with solitary angiokeratomas and to determine the sensitivity, specificity, positive predictive value, negative predictive value, and reproducibility of these dermoscopic features.
  • PATIENTS: There were 256 patients total, and 32 specimens each of solitary angiokeratomas, melanocytic nevi, Spitz-Reed nevi, malignant melanomas, pigmented basal cell carcinomas, dermatofibromas, seborrheic keratoses, and other vascular lesions (19 angiomas, 7 pyogenic granulomas, 3 spider nevi, 2 lymphangiomas, and 1 venous lake) were consecutively collected from the laboratories of 8 hospitals.
  • MAIN OUTCOME MEASURES: The frequency, sensitivity, specificity, positive predictive value, negative predictive value, intraobserver agreement, and interobserver agreement of the different dermoscopic features associated with solitary angiokeratomas were calculated, and the differences were evaluated using the chi(2) or Fisher exact test.
  • RESULTS: Six dermoscopic structures were evident in at least 50% of the solitary angiokeratomas: dark lacunae (94%), whitish veil (91%), erythema (69%), peripheral erythema (53%), red lacunae (53%), and hemorrhagic crusts (53%).
  • Conclusion Dermoscopy is helpful in improving the diagnostic accuracy of solitary angiokeratomas and allows the observer to differentiate them from other cutaneous tumors such as malignant melanomas and pigmented basal cell carcinomas.
  • [MeSH-major] Angiokeratoma / pathology. Dermoscopy. Skin Neoplasms / pathology

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  • (PMID = 17372096.001).
  • [ISSN] 0003-987X
  • [Journal-full-title] Archives of dermatology
  • [ISO-abbreviation] Arch Dermatol
  • [Language] eng
  • [Publication-type] Journal Article; Multicenter Study
  • [Publication-country] United States
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97. Mirceva V, Hein R, Ring J, Möhrenschlager M: A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease. Australas J Dermatol; 2010 Feb;51(1):36-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.
  • Fabry disease is a rare, X-chromosome-linked lysosomal storage disease caused by a deficient alpha-galactosidase A enzyme.
  • The disease manifests primarily in affected hemizygous males and to some extent in heterozygous females ('carrier').
  • A 45-year-old female Fabry disease patient without angiokeratomas but with numerous angiomas is presented.
  • An intrafamilial follow-up search detected a reduced leukocyte alpha-galactosidase A activity in her father, who suffered exclusively from coronary heart disease.
  • Our case report underlines the possible wide range of clinical signs in Fabry disease patients, sometimes complicated by missing typical lesions (e.g. angiokeratomas).
  • In oligosymptomatic Fabry disease cases, genetic analysis is recommended.
  • [MeSH-major] Fabry Disease / diagnosis. Hemangioma / diagnosis. Heterozygote Detection. Skin Neoplasms / diagnosis. alpha-Galactosidase / genetics
  • [MeSH-minor] Angiokeratoma / diagnosis. Angiokeratoma / genetics. Angiokeratoma / pathology. Female. Heterozygote. Humans. Leukocytes / enzymology. Male. Middle Aged

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  • (PMID = 20148840.001).
  • [ISSN] 1440-0960
  • [Journal-full-title] The Australasian journal of dermatology
  • [ISO-abbreviation] Australas. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Australia
  • [Chemical-registry-number] EC 3.2.1.22 / alpha-Galactosidase
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98. Morais P, Santos AL, Baudrier T, Mota AV, Oliveira JP, Azevedo F: Angiokeratomas of Fabry successfully treated with intense pulsed light. J Cosmet Laser Ther; 2008 Dec;10(4):218-22
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Angiokeratomas of Fabry successfully treated with intense pulsed light.
  • Fabry disease (FD) is a rare X-linked lysosomal storage disorder resulting from the deficient activity of the enzyme alpha-galactosidase A.
  • Angiokeratomas (AKs) are a frequent manifestation of this disease.
  • [MeSH-major] Angiokeratoma / therapy. Fabry Disease / pathology. Phototherapy / methods. Skin Neoplasms / therapy

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  • (PMID = 18830871.001).
  • [ISSN] 1476-4180
  • [Journal-full-title] Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology
  • [ISO-abbreviation] J Cosmet Laser Ther
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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99. Ghosh SK, Bandyopadhyay D: Acute scrotal bleeding. J Emerg Trauma Shock; 2010 Oct;3(4):416-7

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • We report a case of acute scrotal hemorrhage from multiple angiokeratomas on scrotum, because of the rarity of the condition and to emphasize the importance of considering this condition in the evaluation of acute scrotal bleeding.

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  • (PMID = 21063571.001).
  • [ISSN] 0974-519X
  • [Journal-full-title] Journal of emergencies, trauma, and shock
  • [ISO-abbreviation] J Emerg Trauma Shock
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Other-IDs] NLM/ PMC2966581
  • [Keywords] NOTNLM ; Angiokeratoma of fordyce / angiokeratoma of scrotum / scrotal bleeding
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100. Choudhury S, Meehan S, Shin HT: Fabry disease: an atypical presentation. Pediatr Dermatol; 2005 Jul-Aug;22(4):334-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Fabry disease: an atypical presentation.
  • Fabry disease is a rare X-linked recessive lysosomal storage disease.
  • Patients typically have angiokeratomas distributed between the umbilicus and knees, painful crises of the hands and feet, and renal, ophthalmologic, and cardiac abnormalities.
  • Although the distribution of the angiokeratomas was atypical, the clinical and histologic findings were consistent with a diagnosis of Fabry disease.
  • [MeSH-major] Angiokeratoma / etiology. Fabry Disease / diagnosis. Skin Neoplasms / etiology






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