1. We extend the spectrum of SERPINA12 variants in palmoplantar keratodermas. 2. The recurrent variant c.970_971del, mainly prevalent in the East Asia population, was proved to be a founder variant. 3. Considerable SERPINA12-related palmoplantar keratoderma patients could be identified from autosomal recessive, non-mutilating, diffused palmoplantar keratoderma patients. 4. Other serpin family members or their co-effect may participate in the etiologies of underexplored hereditary palmoplantar keratodermas.
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http://dx.doi.org/10.1111/bjd.21064 | DOI Listing |
J Dermatol
January 2025
Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
Nagashima-type palmoplantar keratosis (NPPK) has been shown to represent a form of autosomal recessive palmoplantar keratosis due to biallelic pathological variants of SERPINB7, which encodes a serine protease inhibitor expressed in the epidermis. Approximately 10 years have elapsed since NPPK was demonstrated to be an independent genetic disease, and the most prevalent palmoplantar keratoderma (PPK) in East Asian countries due to a high prevalence of founder mutations in SERPINB7. Since then, it has become evident that biallelic pathological variants of SERPINA12, which encodes a serine protease inhibitor expressed in the epidermis, can also manifest symptoms analogous to those of NPPK.
View Article and Find Full Text PDFActa Derm Venereol
January 2025
Infinity, University of Toulouse, CNRS, Inserm, UPS, Toulouse, France; CHU Toulouse, Purpan hospital, laboratory of cell biology and cytology, Federal Institute of Biology, Toulouse, France.
Front Genet
December 2024
Department of Dermatology, Peking University Shenzhen Hospital, Shenzhen, China.
Olmsted syndrome is characterized by symmetrically distributed, destructive, inflammatory palmoplantar keratoderma with periorificial keratotic plaques, most commonly due to gain-of-function mutations in the transient receptor potential vanilloid 3 (TRPV3) gene, which involves multiple pathological functions of the skin, such as hyperkeratosis, dermatitis, hair loss, itching, and pain. Recent studies suggest that mutations of located in different structural domains lead to cases of varying severity, suggesting a potential genotype-phenotype correlation resulting from TRPV3 gene mutations. This paper reviews the genetics and pathogenesis of Olmsted syndrome, as well as the potential management and treatment.
View Article and Find Full Text PDFFront Pharmacol
December 2024
Department of Gastroenterology, Zhongshan Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, Fujian, China.
Cureus
November 2024
Internal Medicine, Kettering Health Network, Kettering, USA.
Aquagenic syringeal acrokeratoderma (ASA) is a rare dermatological condition characterized by the transient appearance of edematous, white, translucent papules on the palms following water exposure. While the condition is most commonly associated with cystic fibrosis (CF) and predominantly affects young women, this report presents a unique case in a 24-year-old man without a history of cystic fibrosis. The patient reported a 10-month history of painful, pruritic eruptions on the hands following exposure to water.
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