Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings
Nepal Journal of Dermatology, Venereology & LeprologySuperficial epidermolytic ichthyosis (SEI), a type of keratinopathic ichthyosis (KPI) caused by mutations in the K2e gene, is clinically characterized by superficial blistering, hyperkeratosis predominantly involving flexures and joints, Mauserung ...
Pooja Shah, Bela Padhiar
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Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin
Case Reports in Dermatology, 2015 Background: Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma.
Fahad Almutawa +5 more
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Genetic testing and new variants in diagnosis of congenital ichthyoses. [PDF]
Mol Genet Genomic MedThe aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000–2020 and what kind of gene variants of congenital ichthyosis have been found. We observed four novel variants in patients with the clinical diagnoses of congenital ichthyoses.
Salo M +3 more
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I Jornada de expertos en ictiosis [PDF]
, 2013 On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín +10 more
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Congenital ichthyosis in a Maltese dog: A case report
Veterinární Medicína, 2021 This case report describes congenital ichthyosis in a Maltese dog, a condition, which has not previously been reported in this breed. The dog presented with several dry, tightly adhering scales showing a multi-focal appearance.
Kim TS +5 more
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Linear verrucous epidermal nevus with oral manifestations: report of two cases [PDF]
, 2020 Linear verrucous epidermal nevi (LVEN) are characterized by verrucous papules often coalescing into well-demarcated skin-colored or brown plaques following the lines of Blaschko.
Gomes, Rafael Tomaz +4 more
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Epidermolytic Acanthoma on Fingers, Mimicking Flat Warts
Case Reports in Dermatology, 2017 Epidermolytic acanthoma (EA) is a benign cutaneous condition. It is characterized by warty or flat-topped, keratotic papules that show epidermolytic hyperkeratosis in histology. EA has been described to occur in various locations, namely the trunk, face,
Salinee Rojhirunsakool +2 more
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Epidermolytic ichthyosis without keratin 1 or 10 mutations: A case report
Saudi Journal of Medicine and Medical Sciences, 2018 In this paper, the authors report a case of an 11-year-old boy with epidermolytic ichthyosis who presented with multiple scattered erosions and typical hyperkeratotic plaques over the face, upper and lower extremities, the trunk, palms and soles.
Ali A Al Raddadi +5 more
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Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma [PDF]
, 2019 Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due
Jury, C. S. +5 more
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Visualization of keratin with diffuse reflectance and autofluorescence imaging and nonlinear optical microscopy in a rare keratinopathic ichthyosis [PDF]
, 2021 Funding Information: Funding: This work was supported by grants from the National Research, Development and Innovation Office of Hungary—NKFIH (FK_131916, 2019 (Semmelweis University, M.M.)), EFOP-3.6.3-VEKOP-16-2017-00009 (P.A., S.B.); the New National ...
Anker, Pálma +13 more
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