Results 11 to 20 of about 13,745 (220)

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   +3 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

Epidermolytic hyperkeratosis: a rare case [PDF]

International Journal of Research in Medical Sciences, 2014
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 therapy. Epidermolytic hyperkeratosis (EHK) is an uncommon form childhood keratinizing disorder. Early
Koushik Pan, Subrata Chakrabarti, Rajdip Choudhury, Anup Sarkar, Ritabrata Mitra   +4 more
core   +4 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, Chen D, Liu H, Zhang CG, Song LL.   +4 more
europepmc   +2 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, O. Sokumbi, A. Bruce, Jacqueline M. Thielen, J. Sluzevich   +4 more
semanticscholar   +6 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
Introduction Mutations in the KRT1 gene encoding keratin 1 cause epidermolytic hyperkeratosis characterized by blistering in the neonatal period followed by ichthyotic hyperkeratosis in childhood and adolescent life.
Osipowicz K, Wertheim-Tysarowska K, Kwiek B, Jankowska E, Gos M, Charzewska A, Woźniak K, Kowalewski C.   +7 more
europepmc   +2 more sources

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

J Eur Acad Dermatol Venereol
Abstract 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, 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   +5 more sources

Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis. [PDF]

Dermatology Online Journal, 2021
Epidermolytic ichthyosis (EI, OMIM 113800) is a rare autosomal dominant keratinization disorder that is caused by keratin 1 or 10 gene mutation. It can be classified clinically based on the presence of palmoplantar hyperkeratosis involvement and extent ...
P. Putra, S. Radiono, Retno Danarti
semanticscholar   +5 more sources

Epidermolytic hyperkeratosis with rickets

Indian Journal of Dermatology, Venereology and Leprology, 2006
A 6-year-old child presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs; and limping since 3 years. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets.
Surajit Nayak, Samira Kumar Behera, Basanti Acharjya, Antaryami Sahu, Debi Prasad Mishra   +4 more
openalex   +4 more sources

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

J Dermatol
Abstract 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, van Gisbergen MW, Kamps MAF, Janssen R, Diercks GFH, Steijlen PM, van Geel M, Bolling MC.   +7 more
europepmc   +5 more sources