摘要
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 α-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 FDwere 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 6hemizygotes 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 emphasizethe valueof early recognition of AKs and hypohidrosis as diagnostic clues to FD, a severe and progressive disorder.
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 α-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 FDwere 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 6hemizygotes 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 emphasizethe valueof early recognition of AKs and hypohidrosis as diagnostic clues to FD, a severe and progressive disorder.
