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GTR Home > Conditions/Phenotypes > Hyperpigmentation with or without hypopigmentation, familial progressive

Hyperpigmentation with or without hypopigmentation, familial progressive

Synonyms
Congenital hypomelanotic and hypermelanotic macules; Hyperpigmentation, familial progressive, 2; MELANOSIS UNIVERSALIS HEREDITARIA

Summary

Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by Wang et al., 2009 and Amyere et al., 2011). Also see familial progressive hyperpigmentation (FPH1; 614233). [from OMIM]

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DCUA, DFNA69, FPH2, FPHH, KL-1, Kitl, MGF, SCF, SF, SHEP7, SLF, WS2F, KITLG
    Summary: KIT ligand

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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