Punctate Palmoplantar Keratoderma: A Case Report

被引：1

作者：

Knowles, Ariel ^{[1
]}

Adams, Maya ^{[1
]}

Glass II, Donald A. ^{[1
,2
]}

机构：

[1] Univ Texas Southwestern Med Ctr, Dept Dermatol, Dallas, TX 75390 USA

[2] Univ Texas Southwestern Med Ctr, Eugene McDermott Ctr Human Growth & Dev, Dallas, TX 75390 USA

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2023年 / 15卷 / 01期

关键词：

keratoderma; palmoplantar keratoderma; aagab; inheritance; punctate palmoplantar keratoderma; AAGAB; MUTATIONS;

D O I：

10.7759/cureus.33769

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：5

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