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Image Number #4698 (Fabry disease)

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

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Differential Diagnosis

History:

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. 

DermNetNZ   eMedicine   PubMed   Dermatology Online   Archives   JAAD for "Fabry disease"

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