Punctate Palmoplantar Keratoderma: A Case Report

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Knowles, Ariel, Adams, Maya, Glass, Donald A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Dermatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9924831/
https://www.ncbi.nlm.nih.gov/pubmed/36793812
http://dx.doi.org/10.7759/cureus.33769
Descripción
Sumario: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.

Ejemplares similares