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Image Number 2074 (Fabry disease)

 
Morphology:
Papules,red

Diagnosis: Fabry disease

Site: Trunk

Sex: M

Age: 25

Type:

Description: Myriad of red vascular papules.

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. 



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