Visualize Submit Comment
Metadata
ID DOID:0111373
Name familial progressive hyperpigmentation with or without hypopigmentation
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.
https://www.ncbi.nlm.nih.gov/pubmed/19375057, https://www.ncbi.nlm.nih.gov/pubmed/21368769
Xrefs

OMIM:145250

Synonyms

FPHH [EXACT]

melanosis universalis hereditaria [EXACT]

MUH [EXACT]

Parent Relationships

is_a skin disease

is_a autosomal dominant disease

Add an item to the term tracker