Diagnosis: Fabry disease
Description: Myriad of red vascular papules.
Morphology: Papules,red
Site: Trunk
Sex: M
Age: 25
Type: Clinical
Submitted By: Nameer Al-Sudany
Differential DiagnosisHistory:
Fabry disease (Angiokeratoma corporis diffusum) is an x-linked recessive inherited lysosomal storage disease characterized by widespread punctate telangiectatic vascular papules, some of which may show keratotic tops. One of the most common sites involved is the lower trunk. The defect is deficiency of the enzyme alpha-galactosidase. Other organs may be involved like the kidney, heart, CNS and cornea.