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familial progressive hyperpigmentation with or without hypopigmentation
Summary
- Synonym
-
- FPHH
- MUH
- melanosis universalis hereditaria
- 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.
- Super Class
- autosomal dominant disease skin disease
External Links
- Disease Ontology
- DOID:0111373
- Mondo Disease Ontology
- OMIM
