Familial progressive hyper- and hypopigmentation (Q98797)

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.