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Punctate Palmoplantar Keratoderma: A Case Report.

ABSTRACT: Palmoplantar keratoderma (PPK) is an umbrella term for a group of heterogeneous disorders, acquired or inherited, that are characterized by hyperkeratosis of palmar and/or plantar surfaces. Punctate PPK (PPPK) has been shown to have an autosomal dominant pattern of inheritance. It is linked with two loci on chromosomes 8q24.13-8q24.21 and 15q22-15q24. In type 1 PPPK, also known as Buschke-Fischer-Brauer disease, loss-of-function mutations in either the AAGAB or the COL14A1 genes have been associated with the disorder.We report here the clinical and genetic features of a patient with findings most consistent with type 1 PPPK.

SUBMITTER: Knowles A

PROVIDER: S-EPMC9924831 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature

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Punctate Palmoplantar Keratoderma: A Case Report.

Knowles Ariel A Adams Maya M Glass Donald A DA

Cureus 20230114 1

Palmoplantar keratoderma (PPK) is an umbrella term for a group of heterogeneous disorders, acquired or inherited, that are characterized by hyperkeratosis of palmar and/or plantar surfaces. Punctate PPK (PPPK) has been shown to have an autosomal dominant pattern of inheritance. It is linked with two loci on chromosomes 8q24.13-8q24.21 and 15q22-15q24. In type 1 PPPK, also known as Buschke-Fischer-Brauer disease, loss-of-function mutations in either the <i>AAGAB</i> or the <i>COL14A1</i> genes ha ...[more]

PMID: 36793812

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