Fabry disease is one of the genetic disorders most commonly encountered by dermatologists (Saurat)
- X-linked lysosomal storage disorder
- Deficiency in alpha-galactosidase A → glycosphingolipid accumulation within endothelial cells
- Clinical presentation
- Pain and paresthesias in the extremities
- Angiokeratomas of skin and mucous membranes → Angiokeratoma Corporis Diffusum
- Punctate dark red papules and macules
- Bathing suit distribution - around between umbilicus and knees
- Hypohidrosis
- Coronary insufficiency and cerebrovascular disease
- Progressive renal insufficiency
- DDx Fucosidiosis
- Fucosidiosis has neurologic deterioration and increased sweat chloride
- Fabry doesn’t have neural involvement, has hypohidrosis
Made with Bullet