Catalog

Familial progressive hyper- and hypopigmentation

No MMS code

Link to WHO Definition

Familial progressive hyper- and hypopigmentation – http://id.who.int/icd/entity/1229773662

Familial progressive hyper- and hypopigmentation is an autosomal dominant disorder of skin pigmentation characterised by progressive diffuse blotchy hypermelanosis accompanied by multiple café-au-lait macules, hypomelanotic macules and lentigines. It is thought to be due to mutations in the KIT ligand gene, mutations of which are also implicated in hereditary universal dyschromatosis.