Results 91 to 100 of about 5,312 (130)

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

Epidermolytic hyperkeratosis (bullous ichthyosiform erythroderma) with rickets: a case report

, 2016
A 13-year-old girl presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs and limping for last 8 years. On the basis of the clinical, histopathologic and biochemical findings, she was diagnosed as a case
Atif Shehzad, Saira Shaheen
core   +1 more source

Alitretinoin as a treatment modality for ichthyosis in women of childbearing age - a case series and review of the literature [PDF]

Background: Acitretin, a synthetic vitamin A derivative, is the most studied and widely used oral retinoid for ichthyoses. Its major disadvantage is the need for contraceptive measures during three years after discontinuation.
Bolling, Marieke, Gostynski, Antoni; id_orcid, Clabbers, Julia, van Oosten, Noor, van Geel, Michel, Steijlen, Peter, Gostyński, Antoni, Vreeburg, Maaike   +7 more
core   +1 more source

Epidermolytic Nevus: An Instance of Mosaic Epidermolytic Ichthyosis. [PDF]

Indian Dermatol Online J, 2020
Adya KA, Inamadar AC, Janagond AB, Palit A.   +3 more
europepmc   +1 more source

Successful Treatment of Two Rare Pediatric Keratinization Disorders with Secukinumab: Epidermolytic Ichthyosis and PRP–GPP Overlap

Psoriasis: Targets and Therapy
Qianyue Xu,1– 3 Jia Zhang1– 3 1Dermatology Center, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, People’s Republic of China; 2Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine ...
Xu Q, Zhang J
doaj  

Retrospective analysis of nail findings in the National Registry for Ichthyosis and Related Disorders database

Supplemental Figure LegendSupplemental Figure 1. Autosomal recessive congenital ichthyosis (Harlequin ichthyosis, ABCA12 genetic mutation) subject with parrot beak nails and pachyonychia of the fingernails. Supplemental Figure 2.
Curtis, K (via Mendeley Data)
core   +1 more source

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   +1 more source

Successful Treatment of Two Rare Pediatric Keratinization Disorders with Secukinumab: Epidermolytic Ichthyosis and PRP-GPP Overlap. [PDF]

Psoriasis (Auckl)
Xu Q, Zhang J.
europepmc   +1 more source

A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis. [PDF]

Pediatr Dermatol, 2018
Zaki TD, Yoo KY, Kassardjian M, Choate KA.   +3 more
europepmc   +1 more source

Applications of CRISPR-Cas9 in Gene Therapy: Generating a cell culture model and developing tools for a sheep model of Epidermolytic Ichthyosis

Epidermolytic ichthyosis is a hereditary skin condition caused by mutations in the KRT1 or KRT10 genes that alter the structure of the associated keratin proteins leading to cytoskeleton fragility, cellular collapse and loss of tissue integrity.
Blaine, Jade
core