Angiokeratoma corporis diffusum

Synonym:

Fabry's disease

Angiokeratoma corporis diffusum is an x-linked recessive disease characterized by the deposition of ceramides within blood vessel walls.

Localized or generalized groups of erythematous, sometimes telangiectatic papules are characteristic, often on the thighs, scrotum or buttocks, although lesions can be anywhere.

Tortuous and dilated retinal vessels are common, as is a corneal dystrophy.

Distal pain and vasomotor disturbances are common.

Cardiac and renal disease is common, with death typically occurring by age 40.

Treatment:

• None.

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