Results 11 to 20 of about 5,312 (130)

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

The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra‐Deep Sequence [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Superficial epidermolytic ichthyosis (SEI), known as ichthyosis bullosa of Siemens (IBS; OMIM No. 146800) before, is a type of keratinopathic ichthyosis due to the KRT2 mutations (NM_000423.3; OMIM No. 600194).
Yue Li, Ruhong Cheng, Jianying Liang, Zhirong Yao, Ming Li   +4 more
doaj   +3 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   +3 more sources

Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings [PDF]

Nepal Journal of Dermatology, Venereology & Leprology
Superficial epidermolytic ichthyosis (SEI), a type of keratinopathic ichthyosis (KPI) caused by mutations in the K2e gene, is clinically characterized by superficial blistering, hyperkeratosis predominantly involving flexures and joints, Mauserung ...
Pooja Shah, Bela Padhiar
doaj   +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   +2 more sources

Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers. [PDF]

PLoS ONE
Non-epidermolytic ichthyosis (NEI) is a hereditary skin disorder affecting several dog breeds, most notably the Golden Retriever. It is primarily caused by a loss-of-function variant in the PNPLA1 gene, while a second, less common form is associated with
Maria Grazia De Iorio, Michele Polli, Sara Ghilardi, Stefano Frattini, Mara Bagardi, Alessandra Paganelli, Maria Cristina Cozzi, Kenza Seghrouchni, Paola Giuseppina Brambilla, Giulietta Minozzi   +9 more
doaj   +3 more sources

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases [PDF]

Acta Dermato-Venereologica
Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang, Xin Huang, Yihe Liu, Shuya Sun, Di Hua, Ran Mo, Yong Yang, Zhiming Chen   +7 more
doaj   +2 more sources

ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis. [PDF]

Anim Genet
Abstract Ichthyoses are a heterogenous group of inherited disorders that are characterized by excessive scale formation on the skin. We investigated a Chihuahua with severe scaling since age 12 weeks. The scaling was generalized and involved the entire body and legs. The paw pads were mildly hyperkeratotic.
Vinberg C, Rietmann SJ, Soto S, Jagannathan V, Åhman S, Leeb T.   +5 more
europepmc   +2 more sources

Epidermolytic hyperkeratosis: clinical update

Clinical, Cosmetic and Investigational Dermatology, 2019
Denice Peter Rout,* Anushka Nair,* Anand Gupta, Piyush KumarAmity Institute of Biotechnology, Amity University Mumbai, Navi Mumbai, India*These authors contributed equally to this workAbstract: Epidermolytic hyperkeratosis (EHK), earlier termed as ...
Peter Rout D, Nair A, Gupta A, Kumar P
doaj   +1 more source

Video Demonstration of ABCA12-Related Harlequin Ichthyosis in a Low-Resource Setting: Case Report and Review of Early Management Challenges. [PDF]

Clin Case Rep
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Elendu C, Amaechi DC, Elendu TC, Amaechi EC, Elendu ID, Okolo EH, Uyanwune MC.   +6 more
europepmc   +2 more sources