Hyperpigmentation with or without hypopigmentation, familial progressive - CISMeF
Hyperpigmentation with or without hypopigmentation, familial progressiveOMIM Phenotype
Preferred Label : Hyperpigmentation with or without hypopigmentation, familial progressive;
Symbol : FPHH;
CISMeF acronym : FPHH;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : MUH; FPH2; Melanosis universalis hereditaria; Hyperpigmentation, familial progressive, 2;
Description : Familial progressive hyperpigmentation (FPH) is an autosomal dominant disorder characterized
by hyperpigmented patches in the skin, which are present in early infancy and increase
in size and number with age (summary by Wang et al., 2009). For a discussion of genetic
heterogeneity of FPH, see FPH1 (614233).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the KIT ligand gene (KITLG, 184745.0003);