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Hyperpigmentation, familial progressive, 1(FPH1)

MedGen UID:
473598
Concept ID:
C2681535
Disease or Syndrome
Synonym: FPH1
 
OMIM®: 614233

Definition

Familial progressive hyperpigmentation (FPH) is a rare autosomal dominant disorder characterized by patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age (summary by Zhang et al., 2006). Also see familial progressive hyperpigmentation with or without hypopigmentation (FPHH; 145250). [from OMIM]

Clinical features

From HPO
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Mashayekhi A, Kaliki S, Walker B, Park C, Sinha N, Kremer FZ, Shields CL, Shields JA
Ophthalmology 2013 Jul;120(7):1465-8. Epub 2013 Mar 22 doi: 10.1016/j.ophtha.2012.12.017. PMID: 23522968

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