Results 1 to 10 of about 637 (113)

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, Sarah Kiener, Vidhya Jagannathan, Terry Nagle, Tosso Leeb   +4 more
doaj   +4 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   +3 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   +3 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   +4 more sources

First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report [PDF]

Frontiers in Immunology
Ichthyoses, a group of skin cornification disorders caused by protein and lipid abnormalities that disrupt epidermal functions, are mainly characterized by generalized scaling.
Wenjie Cheng, Wenjie Cheng, Wenjie Cheng, Chaolan Pan, Chaolan Pan, Chaolan Pan, Zhe Sun, Zhe Sun, Zhe Sun, Peiyi Sun, Peiyi Sun, Peiyi Sun, Jiawen Li, Jiawen Li, Jiawen Li, Zhirong Yao, Zhirong Yao, Zhirong Yao, Xiaoxiao Wang, Xiaoxiao Wang, Xiaoxiao Wang, Jia Zhang, Jia Zhang, Jia Zhang   +23 more
doaj   +3 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   +4 more sources

Mosaic epidermolytic ichthyosis - case report [PDF]

Anais Brasileiros de Dermatologia, 2013
Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma.
Marcela Sena Teixeira Mendes, Samara Silva Kouzak, Thaissa Araújo Aquino, Gustavo Henrique Soares Takano, Antonio de Padua Lima   +4 more
doaj   +4 more sources

Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family [PDF]

Therapeutics and Clinical Risk Management, 2014
Zhiliang Li,1,* Qiao Liu,2,* Aimin Wang,2 Hongsheng Wang,1 Chengrang Li1 1Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, People's Republic of China; 2Hainan ...
Li Z, Liu Q, Wang A, Wang H, Li C
doaj   +4 more sources

Concurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link [PDF]

JAAD Case Reports
Jing Yi Han, BSc (Hons), Isabelle A. Vallerand, MD, PhD, Ahmed Shah, MD, MSc, Michelle M. Schneider, MB, BCh, BAO, Lynne H. Robertson, MD   +4 more
doaj   +3 more sources

Superficial epidermolytic ichthyosis in a neonate

Indian Journal of Paediatric Dermatology, 2023
Superficial epidermolytic ichthyosis (SEI) is a rare blistering disorder, manifesting as blisters and hyperkeratosis. It has characteristic histopathological features, hyperkeratosis, vacuolar degeneration of the granular layer, and subcorneal split ...
Pandharinath Keshav Khade, Sunanda Arun Mahajan, Ketki Shekhar Bhoite   +2 more
doaj   +2 more sources