Results 1 to 10 of about 247 (78)

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).
Zhirong Yao, Ruhong Cheng, Jianying Liang   +2 more
exaly   +6 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
Ahmed Shah, Isabelle A Vallerand
exaly   +6 more sources

From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response [PDF]

JAAD International
Alexandra Carla Bobica, MSc, MD, Sarah Moussa, MD, Lydia Ouchene, MD, Megha Udupa, MD, Hessah BinJadeed, MBBS, Rahaf Bashihab, MBBS, Zuzanna Misiewicz, PhD, Laura Grönroos, MSc, Julie Powell, MD, May Chergui, MD, Tania Cruz Marino, MD, PhD, William D. Foulkes, MBBS, PhD, Elena Netchiporouk, MD, MSc   +12 more
doaj   +4 more sources

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in <i>KRT2</i>. [PDF]

Int J Mol Sci, 2022
Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant inherited ichthyosis. SEI is caused by mutations in KRT2 and frequently shows erythroderma and widespread blistering at birth. We report the clinical manifestations of two patients from a Japanese family with SEI caused by a hotspot mutation, p.Glu487Lys, in KRT2.
Suzuki Y, Takeichi T, Tanahashi K, Muro Y, Suga Y, Ogi T, Akiyama M.   +6 more
europepmc   +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

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

Superficial epidermolytic ichthyosis: A rare disorder with the unusual absence of blistering [PDF]

Nasza Dermatologia Online, 2022
Superficial epidermolytic ichthyosis (SEI), formerly known as ichthyosis bullosa of Siemens (IBS), is an extremely rare keratinization disorder with superficial peeling, with an estimated prevalence of 1:500,000, caused by a variety of mutations in the keratin 2E gene.
Ashwani Rana, Prajul Mehta
exaly   +2 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

Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings

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

Characterizing superficial epidermolytic ichthyosis in a patient with KRT2 mutation responsive to ustekinumab. [PDF]

JAAD Case Rep
Zaino M, Jones J, Hu R, Choate K, Callen JP, Schadt CR.   +5 more
europepmc   +3 more sources