Catalog

Dermochondrocorneal dystrophy

No MMS code

Link to WHO Definition

Dermochondrocorneal dystrophy – http://id.who.int/icd/entity/1305138145

Dermochondrocorneal dystrophy is a rare autosomal recessive genetic disorder characterised by abnormalities in the skin, the bones of the extremities and the corneae. Nodules resembling xanthomata develop over the dorsa of the fingers, the tips of the elbows and on the nose and ears; their histogenesis is unclear but may be due to anomalous control of fibroblast or chondrocyte proliferation and secretion. Deformities of the hands and feet result from abnormal ossification of cartilage. Additionally, anterior central opacities develop in the corneae.