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
Low prevalence of methicillin-resistant Staphylococcus aureus (MRSA) carriage in women from former Yugoslavia living in Switzerland [PDF]
, 2018 It is erroneous to draw too many conclusions about global university rankings. Making a university’s reputation rest on the subjective judgement of senior academics and over-reliance on interpreting and utilising secondary data from bibliometrics and ...
Dürig, P. +2 more
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Síndrome tilose hereditária e câncer de esôfago Hereditary tylosis syndrome and esophagus cancer
Anais Brasileiros de Dermatologia, 2009 A tilose palmo-plantar é um distúrbio autossômico dominante caracterizado por uma hiperceratose palmo-plantar. Em geral, desenvolve-se na segunda infância e se acentua em áreas de pressão.
Camila Alves de Souza +3 more
doaj +1 more source
Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds
Veterinary Sciences, 2022 The plasticity of the genome is an evolutionary factor in all animal species, including canines, but it can also be the origin of diseases caused by hereditary genetic mutation.
Pablo Jesús Marín-García, Lola Llobat
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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
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
doaj +1 more source
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
core
Epidermolytic Ichthyosis Sine Epidermolysis–A Case Report and Molecular Analysis
Journal of Health Science and Medical Research (JHSMR), 2023 Epidermolytic ichthyosis (EI) is a rare genodermatosis disorder. We report a 39-year-old woman with EI, who presented with generalized erythroderma since birth, followed by generalized hyperkeratosis later in life.
Phanitchanat Phusuphitchayanan +2 more
doaj +1 more source
Toxic Epidermal Necrolysis after Pemetrexed and Cisplatin for Non-Small Cell Lung Cancer in a Patient with Sharp Syndrome [PDF]
, 2012 Background: Pemetrexed is an antifolate drug approved for maintenance and second-line therapy, and, in combination with cisplatin, for first-line treatment of advanced nonsquamous non-small cell lung cancer.
Aguiar D +28 more
core +1 more source
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
doaj +1 more source