Results 11 to 20 of about 1,914 (209)

Epidermolytic hyperkeratosis of the vulva: Case report and review of the literature [PDF]

Skin Health and Disease
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, Camila Villa‐Ruiz, Candice Brem, Debjani Sahni   +3 more
doaj   +3 more sources

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report [PDF]

Clinical Case Reports
We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the KRT10 ...
Elke Smits, Gunnar Naulaers, Maria C. Bolling, Eric Legius, Caroline Colmant   +4 more
doaj   +3 more sources

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort. [PDF]

J Eur Acad Dermatol Venereol
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
Frommherz L, Giehl K, Hofmann J, Huebner S, Kiekbusch K, Sabkova T, Süßmuth K, Alter S, Tantcheva-Poór I, Ott H, Fischer J, Has C.   +11 more
europepmc   +4 more sources

Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis. [PDF]

J Dermatol
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 ...
van der Velden JJAJ, van Gisbergen MW, Kamps MAF, Janssen R, Diercks GFH, Steijlen PM, van Geel M, Bolling MC.   +7 more
europepmc   +4 more sources

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report [PDF]

Clinical Case Reports
Key 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, Bernadett Kurz, Julia Schreml, Judith Fischer, Alrun Hotz, Christoph M. Hammers, Mark Berneburg, Dennis Niebel, Stephan Schreml   +8 more
doaj   +3 more sources

Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex. [PDF]

Postepy Dermatol Alergol, 2021
Osipowicz K, Wertheim-Tysarowska K, Kwiek B, Jankowska E, Gos M, Charzewska A, Woźniak K, Kowalewski C.   +7 more
europepmc   +3 more sources

Epidermolytic hyperkeratosis: a rare case [PDF]

, 2017
A 6 month old girl presented with generalized hyperkeratosis, most marked over the flexures since birth. On the basis of the clinical& histopathologic findings, she was diagnosed as a case of epidermolytic hyperkeratosis .She was treated with retinoid ...
Chakrabarti, Subrata, Choudhury, Rajdip, Mitra, Ritabrata, Pan, Koushik, Sarkar, Anup   +4 more
core   +3 more sources

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.
Christina Dai, Olayemi Sokumbi, Alison J. Bruce, Jacqueline M. Thielen, Jason C. Sluzevich   +4 more
openalex   +5 more sources

A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report [PDF]

Frontiers in Medicine
Palmoplantar keratoderma (PPK) represents a heterogeneous group of disorders characterized by hyperkeratosis of the palms and soles. Epidermolytic palmoplantar keratoderma (EPPK) is typically caused by variations in KRT9 or KRT1 genes.
Chunli Lin, Huaqing Chen, Shuqin Lai, Shan Huang, Zimeng Guo, Lang Xie, Wei Zheng, Jingfa Lu, Zhaolin Zeng, Chunlei Wan, Longnian Li   +10 more
doaj   +2 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, Zhe Xu, Rui He, Xin Xiang, Bin Zhang, Lin Ma   +5 more
doaj   +2 more sources