Results 111 to 120 of about 1,421 (196)

Ichthyosis: Assessing Severity And Genotype-Phenotype Correlations [PDF]

, 2017
The ichthyoses, also known as disorders of keratinization (DOK), encompass a group of genetic skin disorders linked by the common finding of abnormal barrier function, which initiates a default compensatory pathway of hyperproliferation, resulting in the
Marukian, Nareh Valerie
core   +1 more source

Detection of steroid sulfatase gene deletion (STS) in Egyptian males with X-linked ichthyosis [PDF]

, 2009
Introduction: Ichthyosis is a disorder of keratinization characterized by diffuse uniform and persistent scales resulting from abnormal epidermal differentiation or metabolism.
Hamed, MFA, Helmy, NA, Hussein, HA
core   +1 more source

A Case of Epidermolytic Ichthyosis with Massive Hyperkeratosis Successfully Treated with Systemic Etretinate [PDF]

, 2023
Eijiro Akasaka, Toshihide Akasaka, Michiyo Nakagawa, Hajime Nakano, Daisuke Sawamura   +4 more
openalex   +1 more source

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

, 2022
Ashwani Rana, Prajul Mehta
openalex   +1 more source

Harlequin Ichthyosis: Case Series

Gynecology Obstetrics & Reproductive Medicine
Objective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. Some risk factors include preterm births and consanguinity.
Huriye Ezveci, Sukran Dogru, Fatih Akkus, Kazim Gezginc   +3 more
doaj   +1 more source

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

, 1999
Virginia P. Sybert, Julie S. Francis, Laura D. Corden, Lynne T. Smith, Molly Weaver, Karen Stephens, W.H. Irwin McLean   +6 more
openalex   +1 more source

381 Epidermolytic ichthyosis sine epidermolysis [PDF]

Journal of Investigative Dermatology, 2016
M. Eskin-Schwartz, M. Drozhdina, O. Sarig, T. Jackman, O. Isakov, L. Samuelov, N. Malchin, A. Peled, D. Vodo, N. Shomron, T. Ruzicka, S. Koshkin, K. Green, A. Paller, E. Sprecher   +14 more
openaire   +1 more source

Semidominant Inheritance in Epidermolytic Ichthyosis [PDF]

Journal of Investigative Dermatology, 2013
Nousbeck, Janna, Padalon-Brauch, Gilly, Fuchs-Telem, Dana, Israeli, Shirli, Sarig, Ofer, Sheffer, Ruth, Sprecher, Eli   +6 more
openaire   +1 more source

[Bullous ichthyosis. A particular form of epidermolytic hyperkeratosis].

Medicina cutanea ibero-latino-americana, 1990
We report three familial cases of a particular type of ichthyosis bullosa. The clinical picture is different from bullous congenital ichthyosiform erythroderma, but the histologic and ultrastructural features are those of epidermolytic hyperkeratosis.
M A, Mariano, L, Ferreira, A P, Baptista, C, Blanchet-Bardon   +3 more
openaire   +1 more source

Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas [PDF]

, 2016
Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate.
Barbara Zegarska, Ewa Stypczyńska, Rafał Czajkowski, Waldemar Placek   +3 more
core   +1 more source