Epidermolytic hyperkeratosis of the vulva: Case report and review of the literature [PDF]
Skin Health and Disease, 2023 Epidermolytic hyperkeratosis is a rare histopathological phenomenon which has been reported in a number of dermatological conditions. It is rare but can cause chronic and intractable symptoms which can impede the quality of life of those affected ...
Dilshad Sachedina +3 more
doaj +4 more sources
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis [PDF]
Pediatric Investigation, 2023 Importance Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex.
Zhou Yang +5 more
doaj +3 more sources
Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis. [PDF]
J DermatolEpidermolytic 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 ...
van der Velden JJAJ +7 more
europepmc +3 more sources
Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report [PDF]
Clinical Case ReportsKey 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).
Kevin Koschitzki +8 more
doaj +3 more sources
Staphylococcus aureus bacteremia and infective endocarditis in a patient with epidermolytic hyperkeratosis: A case report. [PDF]
World J Clin Cases, 2022 BACKGROUND Staphylococcus aureus bacteraemia (SAB) is among the leading causes of bacteraemia and infectious endocarditis. The frequency of infectious endocarditis (IE) among SAB patients ranges from 5% to 10%-12%.
Chen Y +4 more
europepmc +2 more sources
Vulvar Epidermolytic Hyperkeratosis: A Comprehensive Systematic Review of Case Reports and Series. [PDF]
J Clin MedBackground: Vulvar epidermolytic hyperkeratosis (EHK) is an exceedingly rare dermatological condition, often presenting as solitary or multiple lesions in the vulvar region.
Cristescu MI +6 more
europepmc +2 more sources
Nevus Comedonicus with Epidermolytic Hyperkeratosis: A Case Report. [PDF]
Iran J Pathol, 2022 Nevus comedonicus (NC) is a rare developmental anomaly of the folliculosebaceous apparatus, which appears as numerous dilated papules containing firm, darkly pigmented, horny plugs. It appears shortly after birth and mostly before the age of 10; however,
Taghavi F +4 more
europepmc +2 more sources
Epidermolytic Hyperkeratosis - case report [PDF]
Anais Brasileiros de Dermatologia, 2015 : Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm ...
Marcos Takeyoshi Hayashida +5 more
doaj +2 more sources
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort. [PDF]
J Eur Acad Dermatol VenereolAbstract Background Keratinopathic ichthyoses are a group of hereditary skin disorders caused by pathogenic variants in keratin genes such as KRT1, KRT2 and KRT10, resulting in conditions such as epidermolytic ichthyosis (EI), autosomal‐recessive EI, superficial EI and epidermal nevus.
Frommherz L +11 more
europepmc +2 more sources
A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis. [PDF]
PLoS ONE, 2022 A 3-months old Chinese shar-pei puppy with ichthyosis was investigated. The dog showed generalized scaling, alopecia and footpad lesions. Histopathological examinations demonstrated a non-epidermolytic hyperkeratosis.
Verena K Affolter +4 more
doaj +2 more sources