Importance of pediatric dermatologists for early diagnosis of Fabry disease.

Abstract

Fabry disease (FD) is a lysosomal disorder caused by a deficiency of α-galactosidase A leading to systemic deposition of glycosphingolipids. Early manifestations of the disease include dermatological and soft tissue symptoms such as angiokeratomas (AK), abnormal sweating, acroparesthesias and lymphedema. Recognition of these symptoms is crucial for early diagnosis and timely treatment. In the current work we will present 2 cases of FD diagnosed in a pediatric dermatology clinic.