Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations.

Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations. Research Abstract Details 

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Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations. Abstract Text:

OBJECTIVE: To determine the significance of the dermatologic and systemic abnormalities found in 11 patients with Fabry disease (FD) which is an X-linked lysosomal storage disorder caused by the partial or complete deficiency of the alpha-galactosidase A enzyme. This defect leads to the accumulation of uncleaved glycosphingolipids throughout vascular endothelium and visceral tissues. DESIGN: Case series. SETTING: Pediatric Dermatology Division, Ramos Mejia Hospital (primary care center) and Laboratory of Neurochemistry (referral center for metabolic diseases). PATIENTS: Eleven patients with FD were studied: 6 hemizygous men (mean age, 23.0 years) and 5 heterozygous women (mean age, 49.4 years). RESULTS: Mucocutaneous angiokeratomas (AKs) were found in 5 (83%) of 6 hemizygotes and 4 (80%) of 5 heterozygotes. The AKs appeared at an average age of 13 years, affecting predominantly genitalia, back, elbows, and other frequently traumatized areas. All the hemizygotes and none of the heterozygotes suffered from hypohidrosis. Angiokeratomas on the trunk and oral mucosa without sweat abnormalities were detected in 80% of heterozygous women. All hemizygotic men presented with acral pain in childhood. CONCLUSION: We emphasize the value of early recognition of AKs and hypohidrosis as diagnostic clues to FD, a severe and progressive disorder.

Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations. Publishing Authors By Initials

For similar skin and connective tissue diseases: skin diseases research abstracts see: skin and connective tissue diseases: skin diseases research

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Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Archives of dermatology

VOLUME: 140

Page Numbers: 1440-6

Journal Abbreviation: Arch Dermatol

ISSN: 0003-987X

DAY: 17

MONTH: Dec

YEAR: 2004

Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations. Information

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LANGUAGE: eng

NlmUniqueID: 372433

Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations. Keywords Mesh Terms:

KEYWORDS: Skin Diseases

MESH TERMS: pathology

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Grant and Affiliation Information for Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations.

AFFILIATION: Pediatric Dermatology Department, Ramos Mejía Hospital, Buenos Aires, Argentina. maggie@advancedsl.com.ar

Country: United States

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MEDLINETA: Arch Dermatol

REFSOURCE: Arch Dermatol. 2004 Dec;140(12):1526-8

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