Results 101 to 110 of about 238,615 (114)

Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1 [PDF]

American Journal of Human Genetics, 1999
SummaryBullous congenital ichthyosiform erythroderma (BCIE) is characterized by blistering and erythroderma in infancy and by erythroderma and ichthyosis thereafter.
Irwin McLean, Lynne T Smith, Virginia P Sybert   +2 more
exaly   +2 more sources

A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis

British Journal of Dermatology, 2010
Background Epidermolytic ichthyosis (EI), previously termed bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a clinically heterogeneous genodermatosis caused by mutations in the genes encoding the suprabasal keratins 1 ...
Marcel F. Jonkman, M A M van Steensel, M F Jonkman   +2 more
exaly   +2 more sources

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Superficial epidermolytic ichthyosis concomitant with atopic dermatitis

European Journal of Dermatology, 2018
Hiromitsu Shimada, Naoko Takeo, Tomoko Saito-Shono, Kazushi Ishikawa, Takashi Sakai, Mizuki Goto, Yutaka Hatano, Sakuhei Fujiwara, Mitsuhiro Matsuda, Takahiro Hamada, Takekuni Nakama, Takashi Hashimoto, Michihiro Kono, Masashi Akiyama, Yasuo Kitajima   +14 more
openaire   +1 more source

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2

International Journal of Molecular Sciences, 2022
Masashi Akiyama, Takuya Takeichi, Tomoo Ogi   +2 more
exaly  

Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a variant

European Journal of Medical Genetics, 2021
Ene-Choo Tan, Yi Zhao, Shi Yun Chia
exaly  

Scabies in a 14-year-old girl with superficial epidermolytic ichthyosis

Pediatric Dermatology, 2022
Angela Hernandez-Martin, Igor Vázquez-Osorio, Nelmar Valentina Ortiz Cabrera   +2 more
exaly  

First Case of Superficial Epidermolytic Ichthyosis Successfully Treated by Dupilumab

Dermatitis®
Chen Wang, Chaolan Pan, Jinfa Dou, Shuai Zhang, Jinghui Song, Ming Li, Jianbo Wang   +6 more
openaire   +1 more source

Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation

JAAD Case Reports, 2020
Angela Hernandez-Martin, Alejandra Reolid   +1 more
exaly  

52204 INAUGURAL REPORT OF RECESSIVE KRT1 WITH A NOVEL MUTATION IN SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS COMBINED WITH HYPERTRICHOSIS

Journal of the American Academy of Dermatology
Minh Van Hoang, Bao Chi Bui, Anh Quynh Ngoc Phan, Vien The Tran, Tri Cao Le, Vy Truc Hoang Nguyen, Nguyen Phan Nguyen, Giang Huong Tran, Phung Kim Thi Ngo   +8 more
openaire   +1 more source

Superficial Epidermolytic Ichthyosis: A Report of Two Families

Pediatric Dermatology, 2013
John Browning
exaly