Results 21 to 30 of about 4,210 (234)
Epidermolytic hyperkeratosis of the vulva [PDF]
Dermatology Online Journal, 2021 Vulvar epidermolytic hyperkeratosis is a benign entity that mimics other malignant and inflammatory vulvar dermatoses clinically and histologically requiring careful clinical pathologic correlation for diagnosis.
Dai, Christina +4 more
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Epidermolytic hyperkeratosis: clinical update
Clinical, Cosmetic and Investigational Dermatology, 2019 Denice Peter Rout,* Anushka Nair,* Anand Gupta, Piyush KumarAmity Institute of Biotechnology, Amity University Mumbai, Navi Mumbai, India*These authors contributed equally to this workAbstract: Epidermolytic hyperkeratosis (EHK), earlier termed as ...
Peter Rout D, Nair A, Gupta A, Kumar P
doaj +5 more sources
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.
europepmc +2 more sources
Bullying in Children With Congenital Ichthyosis. [PDF]
Pediatr DermatolABSTRACT Background/Objectives Bullying of children with chronic disorders is associated with an increased risk of depression, anxiety, poor self‐esteem, and suicidal ideation. Congenital ichthyoses are genodermatoses with extensive visible scaling and inflammation.
Rustad AM +6 more
europepmc +2 more sources
Mosaic epidermolytic ichthyosis [PDF]
BMJ Case Reports, 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]).
José Carlos Cardoso +3 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
europepmc +2 more sources
Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis. [PDF]
J DermatolAbstract Epidermolytic ichthyosis (EI) is a type of congenital ichthyosis, characterized by erythema and blistering at birth followed by hyperkeratosis. EI is caused by pathogenic variants in the genes KRT1 and KRT10, encoding the proteins keratin 1 (KRT1) and keratin 10 (KRT10), respectively, and is primarily transmitted by autosomal‐dominant ...
van der Velden JJAJ +7 more
europepmc +2 more sources
Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report. [PDF]
Clin Case RepSmits E +4 more
europepmc +2 more sources
Systematised Epidermal Nevus - A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2015 A 20-year-old female presented with raised skin lesions all over the body since birth. Clinical examination revealed multiple pigmented macules and hyperkeratotic papules seen along Blaschko's lines over the face, neck, trunk and both lower limbs ...
MANOHARAN DHANARAJ, MANOHARAN RAMALINGAM
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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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