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Hyperkeratosis-hyperpigmentation syndrome

MedGen UID:
326735
Concept ID:
C1840428
Disease or Syndrome
Synonym: Hyperkeratosis-Hyperpigmentation Syndrome
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.
 
Monarch Initiative: MONDO:0007757
OMIM®: 144190
Orphanet: ORPHA1336

Definition

Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperkeratosis-hyperpigmentation syndrome
Follow this link to review classifications for Hyperkeratosis-hyperpigmentation syndrome in Orphanet.

Recent clinical studies

Etiology

Figuera LE, Rodríguez-Catellanos MA, González-Mendoza A, Cantú JM
Clin Genet 1993 Feb;43(2):73-5. doi: 10.1111/j.1399-0004.1993.tb04430.x. PMID: 8448904

Diagnosis

Oyeleke BS, Shekwonyadu KI
Pan Afr Med J 2020;36:380. Epub 2020 Aug 31 doi: 10.11604/pamj.2020.36.380.20936. PMID: 33235657Free PMC Article
Figuera LE, Rodríguez-Catellanos MA, González-Mendoza A, Cantú JM
Clin Genet 1993 Feb;43(2):73-5. doi: 10.1111/j.1399-0004.1993.tb04430.x. PMID: 8448904

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