Term Name: | familial progressive hyperpigmentation with or without hypopigmentation |
---|---|
Synonyms: | FPHH, melanosis universalis hereditaria, MUH |
Definition: | A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. |
Ontology: | Human Disease [DOID:0111373] ( DOID:0111373 ) |