Human genes for familial progressive hyperpigmentation with or without hypopigmentation
Familial progressive hyperpigmentation with or without hypopigmentation [DOID:0111373]
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 KITLG on chromosome 12q21.32.
Synonyms: familial progressive hyperpigmentation with or without hypopigmentation, DOID:0111373, hereditary progressive hyperpigmentation with or without hypopigmentation, familial progressive hyperpigmentation with or without hypopigmentations, FPHH ...