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Isolated punctate palmoplantar keratoderma

MedGen UID:
1842164
Concept ID:
C5679617
Disease or Syndrome
Synonyms: Isolated punctate palmoplantar hyperkeratosis; Isolated punctate PPK
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.
 
Orphanet: ORPHA2338

Recent clinical studies

Etiology

Gram SB, Jørgensen ASF, Bygum A, Brusgaard K, Ousager LB
Clin Genet 2024 May;105(5):561-566. Epub 2024 Feb 4 doi: 10.1111/cge.14486. PMID: 38311882
Lovgren ML, McAleer MA, Irvine AD, Wilson NJ, Tavadia S, Schwartz ME, Cole C, Sandilands A, Smith FJD, Zamiri M
Br J Dermatol 2017 May;176(5):1345-1350. Epub 2017 Apr 2 doi: 10.1111/bjd.14973. PMID: 27534273Free PMC Article

Diagnosis

Gram SB, Jørgensen ASF, Bygum A, Brusgaard K, Ousager LB
Clin Genet 2024 May;105(5):561-566. Epub 2024 Feb 4 doi: 10.1111/cge.14486. PMID: 38311882

Clinical prediction guides

Gram SB, Jørgensen ASF, Bygum A, Brusgaard K, Ousager LB
Clin Genet 2024 May;105(5):561-566. Epub 2024 Feb 4 doi: 10.1111/cge.14486. PMID: 38311882
Zhang XJ, Li M, Gao TW, He PP, Wei SC, Liu JB, Li CR, Cui Y, Yang S, Yuan WT, Li CY, Liu YF, Xu SJ, Huang W
J Invest Dermatol 2004 May;122(5):1121-5. doi: 10.1111/j.0022-202X.2004.22507.x. PMID: 15140213

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