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Familial progressive hyper- and hypopigmentation

MedGen UID:
1643385
•Concept ID:
C4706423
•
Disease or Syndrome
Synonyms: Familial progressive hyper and hypopigmentation; familial progressive hyper- and hypopigmentation; Familial progressive hyperpigmentation and hypopigmentation of skin; FPHH
SNOMED CT: Familial progressive hyperpigmentation and hypopigmentation of skin (763368004); Familial progressive hyper and hypopigmentation (763368004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017239
Orphanet: ORPHA280628

Definition

A rare genetic skin pigmentation anomaly disorder with characteristics of progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple cafe au lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated cafe au lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. There is evidence this disease is caused by heterozygous mutation in the KIT ligand gene (KITLG) on chromosome 12q22. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial progressive hyper- and hypopigmentation

Recent clinical studies

Prognosis

Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.
Wang J, Li W, Zhou N, Liu J, Zhang S, Li X, Li Z, Yang Z, Sun M, Li M
BMC Med Genomics 2021 Jan 6;14(1):12. doi: 10.1186/s12920-020-00851-5. PMID: 33407466Free PMC Article

Clinical prediction guides

Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.
Wang J, Li W, Zhou N, Liu J, Zhang S, Li X, Li Z, Yang Z, Sun M, Li M
BMC Med Genomics 2021 Jan 6;14(1):12. doi: 10.1186/s12920-020-00851-5. PMID: 33407466Free PMC Article

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