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Phenotypic and genotypic analysis of SERPINA12-related autosomal recessive palmoplantar keratoderma in southwestern China.
J Dermatol
December 2024
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.
Hereditary palmoplantar keratoderma (hPPK) comprises a clinical and heterogeneous group of skin disorders characterized by hyperkeratosis of the palms and soles. Variants of SERPINA12 have been implicated in autosomal recessive diffuse hPPK, which shares similarities with Nagashima-type PPK due to biallelic variants in SERPINB7. To date, seven SERPINA12 variants have been found in 11 patients with biallelic SERPINA12 variants worldwide.
View Article and Find Full Text PDFNagashima-type palmoplantar keratoderma.
Indian J Dermatol Venereol Leprol
November 2024
Department of Dermatology, Taipei Veterans General Hospital, Taipei, Taiwan.
Coincidence of acral peeling skin syndrome and Nagashima-type palmoplantar keratosis in a Japanese pedigree with acral skin peeling.
J Dermatol
August 2024
Department of Dermatology, Self-Defense Forces Central Hospital, Tokyo, Japan.
Acral peeling skin syndrome (APSS; MIM 609796) is a rare genodermatosis characterized by painless focal cutaneous exfoliation of the dorsal hands and feet, typically displaying autosomal recessive inheritance. While cases associated with a founder mutation in TGM5 are relatively common in European Caucasian populations, no APSS cases have been reported from Japan or other East Asian countries. In contrast, Nagashima-type palmoplantar keratosis (NPPK; MIM 615598), caused by variants in SERPINB7, is relatively common in East Asia due to founder mutations.
View Article and Find Full Text PDFNagashima-type palmoplantar keratosis patients harboring SERPINB7 and SERPINA12 variants.
J Dermatol
July 2024
Dermatology Hospital, Southern Medical University, Guangzhou, China.
SERPINB7 Deficiency Increases Legumain Activity and Impairs the Epidermal Barrier in Nagashima-Type Palmoplantar Keratoderma.
J Invest Dermatol
June 2024
Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for skin diseases, Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, Nanjing, China. Electronic address:
Article Synopsis
- - Nagashima-type palmoplantar keratoderma is a genetic skin condition caused by mutations in the SERPINB7 gene, commonly seen in Asians, with no effective treatment currently available as its underlying mechanisms are not fully understood.
- - Research using Serpinb7 mice revealed a compromised skin barrier and reduced epidermal differentiation, particularly following treatment with acetone-ether-water, highlighting the role of SERPINB7 in maintaining skin integrity.
- - The study found that SERPINB7 functions as an inhibitor of the protease legumain, and its deficiency results in increased legumain activity, which disrupts cytoskeletal proteins and contributes to the skin barrier issues in this condition.
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