Punctate Palmoplantar Keratoderma: A Case Report.
| Autor: | Knowles A; Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, USA., Adams M; Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, USA., Glass DA 2nd; Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, USA.; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, USA. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 Jan 14; Vol. 15 (1), pp. e33769. Date of Electronic Publication: 2023 Jan 14 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.33769 |
| Abstrakt: | 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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Knowles et al.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|