点状掌跖角皮症：一例报告
Punctate Palmoplantar Keratoderma: A Case Report.
作者信息
Knowles Ariel, Adams Maya, Glass Donald A
机构信息
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.
出版信息
Cureus. 2023 Jan 14;15(1):e33769. doi: 10.7759/cureus.33769. eCollection 2023 Jan.
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 or the 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.
掌跖角化病（PPK）是一组异质性疾病的统称，这些疾病可后天获得或遗传，其特征是手掌和/或足底表面角化过度。点状掌跖角化病（PPPK）已被证明具有常染色体显性遗传模式。它与8号染色体8q24.13 - 8q24.21和15号染色体15q22 - 15q24上的两个基因座相关。在1型PPPK（也称为布希克 - 费舍尔 - 布劳尔病）中， 或 基因的功能丧失突变与该疾病有关。我们在此报告一名患者的临床和遗传特征，其表现与1型PPPK最为相符。
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