Catalog

Angiokeratoma corporis diffusum

No MMS code

Link to WHO Definition

Angiokeratoma corporis diffusum – http://id.who.int/icd/entity/558012563

Angiokeratoma corporis diffusum consists in multiple vascular papules located symmetrically on the lower abdomen, the genitalia, the buttocks, and the thighs in a bathing-trunk distribution. It is closely associated with and may be the presenting sign of Fabry disease, a progressive, inherited, multisystem disorder of glycosphingolipid metabolism. It may also develop in other lysosomal diseases including fucosidosis, alpha-N-acetylgalactosaminidase deficiency and galactosialidosis.