3,540 results match your criteria: "Keratosis Palmaris et Plantaris"

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.

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Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma.

Acta 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.

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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.

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A real-world pharmacovigilance study of Sorafenib based on the FDA Adverse Event Reporting System.

Front Pharmacol

December 2024

Department of Gastroenterology, Zhongshan Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, Fujian, China.

Article Synopsis
  • The study aimed to monitor adverse events (AEs) linked to Sorafenib, a drug used for treating liver, kidney, and thyroid cancers, focusing on enhancing patient safety.
  • Reports from the FDA Adverse Event Reporting System (FAERS) from 2004 to 2024 were analyzed, revealing a total of 18,624 patients and 82,857 AEs across 26 organ systems.
  • The findings included both expected AEs, like diarrhea and fatigue, and unexpected ones, such as gait inability and hyperkeratosis, highlighting the need for ongoing monitoring to identify new reactions and improve patient care.
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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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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.

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Keratoelastoidosis Marginalis of the Hands: A Distinct Form of Palmoplantar Keratoderma.

Cureus

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.

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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.

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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.

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Article Synopsis
  • Palmoplantar keratoderma is a complex skin condition with diverse clinical presentations and genetic factors, making diagnosis challenging and sparking the need for comprehensive genetic testing.
  • This study collected data from 142 patients over several years to understand the different types and genetic causes of palmoplantar keratoderma by examining clinical features and performing genetic sequencing.
  • Results revealed that a significant proportion (83%) of families had identifiable genetic variants, with the most common variant linked to the AAGAB gene, affecting the majority of participants who presented with a punctate subtype of the condition.
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The cumulative effect of compound heterozygous variants in TRPV3 caused Olmsted syndrome.

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.

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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.

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Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.

Genes 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.

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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.

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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.

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Article Synopsis
  • A new case of OS was identified due to an unprecedented mutation in the associated gene, presenting with significant skin issues and leading to cancer on the foot.
  • This discovery highlights the broad range of symptoms related to the gene's mutations and emphasizes the importance of continuous monitoring for affected individuals.
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