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.
View Article and Find Full Text PDFDermatol Reports
November 2024
Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Palmoplantar keratodermas (PPKs), also known as 'keratosis palmaris et plantaris', are a heterogeneous group of disorders characterized by abnormal thickening of the epidermal skin of the palms and soles leading to hyperkeratosis. It could be acquired or hereditary. Acquired PPK often occurs as a paraneoplastic syndrome as well as a stigma of other dermatoses.
View Article and Find Full Text PDFCureus
November 2024
Dermatopathology, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, SVN.
Keratoelastoidosis marginalis of the hands (KEMH) is an acquired form of marginal papular keratoderma, characterized by thickened keratotic plaques predominantly affecting the lateral side of the index finger and the medial side of the thumb. It is often associated with chronic sun exposure and trauma, usually affecting older individuals. Due to clinical similarities with other palmoplantar keratodermas, differential diagnosis is essential for effective treatment management.
View Article and Find Full Text PDFInt J Dermatol
December 2024
Department of Dermatology, Hospital del Mar, Barcelona, Spain.
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 PDFJAAD Case Rep
December 2024
Department of Dermatology, SUNY Downstate Health Sciences University, Brooklyn, New York.
Int J STD AIDS
December 2024
Dermatology Department, Hospital Universitario "Dr José Eleuterio González", Universidad Autónoma de Nuevo León, Monterrey, Mexico.
Syphilis, known for its capacity to mimic various diseases, has seen rising incidence, particularly in adolescents, men who have sex with men (MSM), and individuals with HIV. Palmoplantar keratoderma (PPK), a rare manifestation of secondary syphilis, poses diagnostic challenges due to its resemblance to other conditions. We report the case of a 42-year-old man living with HIV presenting with acquired PPK, characterized by hyperkeratotic plaques on the palms and soles, alongside syphilitic roseola.
View Article and Find Full Text PDFIndian J Dermatol Venereol Leprol
August 2024
Department of Dermatology, West China Hospital, Wuhou District, Guoxue Alley, Chengdu, Sichuan, China.
Indian J Dermatol Venereol Leprol
November 2024
Department of Dermatology, Taipei Veterans General Hospital, Taipei, Taiwan.
JAMA Dermatol
December 2024
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Exp Dermatol
November 2024
Molecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
Br J Dermatol
November 2024
Department of Dermatology, Children's Hospital of Fudan University, Shanghai, China.
J Dermatol Sci
December 2024
Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China. Electronic address:
Background: Olmsted syndrome (OS) is a rare genodermatosis predominantly inherited in an autosomal dominant manner, typically arising from gain-of-function (GOF) variants in the transient receptor potential channel vanilloid 3 (TRPV3) gene.
Objective: This study aims to investigate potential mechanisms underlying OS in two cases presenting with an autosomal recessive inheritance pattern.
Methods: Next-generation sequencing panel was employed to identify TRPV3 variants.
Int J Dermatol
November 2024
Pachyonychia Congenita Project, Salt Lake City, Utah, USA.
JBJS Case Connect
October 2024
Department of Orthopaedic Surgery, Atrium Health Musculoskeletal Institute-Carolinas Medical Center, Charlotte, North Carolina.
Case: Vohwinkel syndrome is a rare, inherited condition marked by defective keratinization. The disorder may feature digital constriction bands (pseudoainhum) which can lead to autoamputation. Surgical excision is the only treatment of pseudoainhum; however, it is fraught with recurrence.
View Article and Find Full Text PDFGenes Genomics
November 2024
Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changle West Road, Xincheng District, Xi'an, 710032, Shaanxi Province, China.
Background: Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by abnormal thickening of the skin on the palms and soles. Striate palmoplantar keratoderma (SPPK) is commonly caused by heterozygous mutations in the desmoglein-1 (DSG1) gene.
Objective: This study aimed to report a case of a 36-year-old Chinese female patient with SPPK caused by a novel DSG1 gene mutation, along with her family history, and explore its potential relationship with other genetic variants.
Orphanet J Rare Dis
November 2024
Department of Dermatology, Maastricht University Medical Centre +, Maastricht, The Netherlands.
Background: The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic in terms of genetics and phenotype. Consequently, diagnostic process is challenging and before implementation of the next generation sequencing, was mostly symptomatic, not causal, which limited research on those diseases.
View Article and Find Full Text PDFClin Exp Dermatol
November 2024
Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan.
ABCA12 is crucial for skin barrier function and traditionally linked to severe congenital ichthyosis, such as harlequin ichthyosis. However, its genotype-phenotype relationship may be more nuanced. Using whole-exome sequencing and Sanger sequencing, we identified four cases of mild ichthyosis with biallelic ABCA12 pathogenic variants.
View Article and Find Full Text PDFFront Oncol
October 2024
Department of Dermatology, The First Affiliated Hospital of Huzhou University, Huzhou, China.
JAAD Case Rep
November 2024
Department of Dermatology, Graduate School of Medicine, Mie University, Tsu, Japan.
Indian J Hematol Blood Transfus
October 2024
Department of Dermatology and Venereology, All India Institute of Medical Sciences, Bhubaneshwar, 751019 India.
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