Angiokeratoma Corporis Diffusum

A rare hereditary condition usually associated with a group of genetic conditions known as lysosomal storage diseases, for example Fabry’s disease. Angiokeratomas are small vascular lesions composed of one or more dilated blood vessels lying under the skin associated with the proliferation of connective tissue cells.

Affected children often have a degenerative arthritis affecting their distal interphalangeal joints and characteristic dark red skin lesions are present. They also get episodic burning pain in the fingers and toes that is not due to the arthritis. Other manifestations include premature vascular disease, kidney failure, corneal opacities, and diarrhea. The diagnosis is made by biopsy of affected tissue, for example skin, liver, or bone marrow.