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
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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
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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
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Eine neuartige MBTPS2‐Missense‐Variante identifiziert Keratosis follicularis spinulosa decalvans in einem Fall von neonataler Erythrodermie [PDF]
J Dtsch Dermatol GesJDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-397, March 2026.
Cuperus E +7 more
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Palmoplantar keratoderma with keratoconus
Middle East African Journal of Ophthalmology, 2018 Palmoplantar keratodermas (PPKs) are a rare heterogeneous group of disorders characterized by abnormal thickening of the skin of palms and soles. Ocular manifestations reported with palmer planter keratosis include scleral melanosis, macular deposits, and congenital cataract.
Gupta, Ved Prakash, Chaudhari, Isha
openaire +3 more sources
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma [PDF]
, 2014 Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early ...
Boonen, S. E. +9 more
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Pathogenic FAM83g palmoplantar keratoderma mutations inhibit the PAWS1::Ck1α association and attenuate wnt signalling [PDF]
, 2019 Background: Two recessive mutations in the FAM83G gene, causing A34E and R52P amino acid substitutions in the DUF1669 domain of the PAWS1 protein, are associated with palmoplantar keratoderma (PPK) in humans and dogs respectively.
A Drozdetskiy +39 more
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Olmsted syndrome: Report of two cases
Indian Journal of Dermatology, 2011 Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female
G K Tharini +3 more
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Late onset pityriasis rubra pilaris type IV treated with low-dose acitretin [PDF]
, 2016 Pityriasis rubra pilaris is a chronic inflammatory dermatosis of unknown etiology and great clinical variability. It has been divided into six categories.
Carvalho, S. +3 more
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