Results 11 to 20 of about 1,421 (196)

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

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, Gameiro AR, Cardoso JC, Reis JP.   +3 more
europepmc   +5 more sources

Epidermolytic ichthyosis without keratin 1 or 10 mutations: A case report [PDF]

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, Taha H Habibullah, Ahmed M Abdelaal, Angie M Felimban, Hosam A Al Raddadi, Mohamed B Satti   +5 more
doaj   +4 more sources

Report of an autosomal recessive epidermolytic ichthyosis

Indian Journal of Paediatric Dermatology, 2020
Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized
K S Chandan, S R Ashitha, Sachin Somashekhar, L Shishira   +3 more
doaj   +3 more sources

Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation. [PDF]

JAAD Case Rep, 2020
Reolid A, Carrasco L, Noguera-Morel L, Torrelo A, Colmenero I, Ortiz-Cabrera NV, Hernández-Martin Á.   +6 more
europepmc   +5 more sources

SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis. [PDF]

Animal Genetics, 2023
Ichthyoses represent a heterogeneous group of cornification disorders that are associated with skin barrier defects. We investigated a 9-month-old Chihuahua showing excessive scale formation.
Castilla, Eloy, Jagannathan, Vidhya, Kiener, Sarah, Leeb, Tosso, Welle, Monika   +4 more
core   +6 more sources

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, Apasee Sooksamran, Chavalit Supsrisunjai   +2 more
doaj   +4 more sources

Epidermolytic ichthyosis: New insights and ongoing challenges. [PDF]

J Eur Acad Dermatol Venereol
Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 5, Page 893-894, May 2025.
Mazereeuw-Hautier J.
europepmc   +4 more sources

Epidermolytic Nevus: An Instance of Mosaic Epidermolytic Ichthyosis.

Indian Dermatol Online J, 2020
Adya KA, Inamadar AC, Janagond AB, Palit A.   +3 more
europepmc   +4 more sources