Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar Keratoderma. [PDF]
J DermatolABSTRACT Hereditary palmoplantar keratoderma (PPK) involves hyperkeratosis of the palmoplantar skin and belongs to the palmoplantar epidermal differentiation disorders (pEDDs). One causal gene is Desmoglein 1 (DSG1), which encodes a protein crucial for epidermal integrity. Monoallelic DSG1 variants cause mild, non‐syndromic PPK, whereas bi‐allelic DSG1
Ahmed S +10 more
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Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases. [PDF]
Int J Mol Sci, 2022 Shchagina O +6 more
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Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-Fischer-Brauer Disease)
Case Reports in Dermatology, 2019 Punctate palmoplantar keratoderma is a rare hereditary palmoplantar keratoderma. Herein we report a 59-year-old male, otherwise healthy, who presented with a 25-year history of asymptomatic persistent slowly progressing skin lesions on both hands.
Rahaf Bukhari +5 more
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Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB [PDF]
, 2019 Punctate palmoplantar keratoderma (PPPK) is a rare, autosomal dominant disorder of keratinization with three main variants. PPPK type 1 (MIM 148600), also known as Buschke-Fischer-Brauer disease, is characterized by the progressive development of ...
Leitch, C. +5 more
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Autoimmune Thyroiditis Presenting as Palmoplantar Keratoderma
Case Reports in Medicine, 2010 Palmoplantar keratoderma is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of palms and soles. Hypothyroidism is an unusual cause of palmoplantar keratoderma, rarely reported in the literature. We report a
Sara Lestre +3 more
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Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association
Indian Dermatology Online Journal, 2016 Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED.
Sunil K Kothiwala +2 more
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Do you know this syndrome? Clouston syndrome [PDF]
Anais Brasileiros de Dermatologia, 2017 Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic.
Sarah Sanches +3 more
doaj +2 more sources
CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the literature [PDF]
, 2017 Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In
Coughlin, Carrie C +6 more
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Palmo-plantar hyperkeratosis associated with HTLV-1 infection: a case report
BMC Infectious Diseases, 2021 Background Palmoplantar hyperkeratosis is a cutaneous manifestation that had not been clearly associated with infection by the human T-cell lymphotropic virus, which is a retrovirus that in most cases does not develop clinical pathologies and its ...
Elías Quintero-Muñoz +6 more
doaj +1 more source
Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma
Pifu-xingbing zhenliaoxue zazhi, 2023 Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome
Yongfeng YAO +3 more
doaj +1 more source