Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature. [PDF]
Pediatr DermatolABSTRACT We describe a 1‐day old female with features of keratitis‐ichthyosis‐deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.
Maarouf S, Clark M, Chen A, Haggstrom A.
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Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis. [PDF]
Vet DermatolBackground – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Rietmann SJ +7 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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Mosaic epidermolytic ichthyosis. [PDF]
BMJ Case Rep, 2021 We report the case of a 51-year-old female patient observed for papillomatous, pigmented, confluent and slightly reticulated lesions, some of which were linear, located mainly in the armpits and extending to the trunk and cervical region and present since birth ([figure 1][1]).
Mendes SR +3 more
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Scabies in a 14‐year‐old girl with superficial epidermolytic ichthyosis
Pediatric Dermatology, 2021 A 14‐year‐old girl who reported generalized scaling and hyperkeratosis since age 1 year presented with severe pruritus of several months’ duration.
I. Vázquez-Osorio +5 more
semanticscholar +5 more sources
X-linked ichthyosis presenting with cryptorchidism for orchidopexy: A rare anesthetic encounter and case report. [PDF]
Clin Case RepKey Clinical Message Cutaneous scaling and associated clinical syndrome displayed in X‐linked ichthyosis mandates multidisciplinary care. Patient with ichthyosis confronts a numerous challenge to an anesthesiologist and demands a rigorous management.
Bhatta S +3 more
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A Case of Epidermolytic Ichthyosis with Massive Hyperkeratosis Successfully Treated with Systemic Etretinate [PDF]
Clinical & Experimental Dermatology and Therapies, 2023 Eijiro Akasaka +4 more
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Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report. [PDF]
Clin Case RepKey Clinical Message Keratosis palmoplantaris striata type I (SPPK‐I) is a rare autosomal‐dominant type of hereditary epidermolytic palmoplantar keratoderma, which can be caused by mutations in desmoglein‐1 (DSG‐1). Patients suffer from hyperkeratotic plaques and painful palmoplantar fissures.
Koschitzki K +8 more
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PA12 A case of pustular psoriasis in epidermolytic ichthyosis: coincidence or common pathway? [PDF]
British Journal of Dermatology, 2023 An 8-year-old boy with epidermolytic ichthyosis (EI) due to a heterozygous KRT1 mutation presented with a striking bullous skin eruption. Microbiological swabs were sent, and oral antibiotics were prescribed for suspected bullous impetigo.
Fiona Lynch +2 more
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Indian Journal of DermatologyBackground: Congenital ichthyoses are a rare Mendelian group of disorders affecting the integument with a heterogeneous clinical presentation amongst which scaling is a constant feature.
Rahul Mahajan +5 more
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