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Case Reports
. 2023 Jan 14;15(1):e33769.
doi: 10.7759/cureus.33769. eCollection 2023 Jan.

Punctate Palmoplantar Keratoderma: A Case Report

Ariel Knowles  1 , Maya Adams  1 , Donald A Glass 2nd  1   2
Affiliations
Case Reports

Punctate Palmoplantar Keratoderma: A Case Report

Ariel Knowles et al. Cureus. .

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.

Keywords: aagab; inheritance; keratoderma; palmoplantar keratoderma; punctate palmoplantar keratoderma.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Punctate palmoplantar keratoderma: pattern of inheritance
Black indicates affected individuals; arrow indicates proband.
Figure 2
Figure 2. Palmar surface of patient’s hands showing multiple punctate hyperkeratotic papules on the palms and fingers
Figure 3
Figure 3. Palmar surface of patient’s left hand showing multiple punctate hyperkeratotic papules on the palms and fingers
See this image and copyright information in PMC

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