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.
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页数：5
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