Results 11 to 20 of about 4,942 (173)

Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother [PDF]

SAGE Open Medical Case Reports
We present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness.
Rachel L Aubry, A. Micheil Innes, Richard M Haber   +2 more
doaj   +2 more sources

Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs [PDF]

Frontiers in Pharmacology, 2023
Hernán Cortes, Gerardo Leyva-Gómez, Leyva-Gómez Gerardo   +2 more
exaly   +2 more sources

Harlequin Ichthyosis: A Rare Case of Congenital Ichthyosis. [PDF]

J Obstet Gynaecol India, 2019
Kataria S, Ajmani SN.
europepmc   +4 more sources

Ichthyosis (concept, pathohistology, clinical picture, treatment)

Vestnik Dermatologii i Venerologii, 2021
Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales.
Tatyana Gennadyevna Takhtarova, Zarema Rimovna Khismatullina, Lyudmila Dmitrievna Panova, Anastasia Nikolaevna Panova   +3 more
doaj   +1 more source

Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis

罕见病研究, 2023
Autosomal recessive congenital ichthyosis caused by CERS3 mutations is extremely rare in clinical practice. We recently identified a family of autosomal recessive congenital ichthyosis and performed multigene exome sequencing for hereditary skin diseases
LIU Juan, MO Ran, LIU Yihe, HUANG Xin, GAO Meng, YANG Yong, CHEN Zhiming   +6 more
doaj   +1 more source

Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis [PDF]

Journal of Clinical and Diagnostic Research, 2015
Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between.
Swati Rathore, Liji Sarah David, Manisha Madhai Beck, Mandeep Singh Bindra, Gautham Arunachal   +4 more
doaj   +1 more source

Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India

Indian Journal of Dermatology, 2017
Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes.
Arghyaprasun Ghosh, Rahul Ahar, Gobinda Chatterjee, Neha Sharma, Shruti Alhad Jadhav   +4 more
doaj   +1 more source

Harlequin ichthyosis: A case image from Syria

Clinical Case Reports, 2022
Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally.
Jacob Al‐Dabbagh, Rajaa Daabool, Reem Hatem, Lina Al‐Soufi   +3 more
doaj   +1 more source

Clinical observation of familial cases of congenital ichthyosis

Педиатрическая фармакология, 2023
Background. Ichthyosis is a group of rare genetic diseases with a wide phenotypic spectrum, characterized most often by generalized hyperkeratinization and desquamation with variable erythema [1].
Nailya R. Pimenova, Elena I. Kashirskaya, Anastasiya V. Alekseeva   +2 more
doaj   +1 more source

Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis

Journal of Pediatric and Neonatal Individualized Medicine, 2019
In this paper, we present an infant born with congenital ichthyosis who was also diagnosed with a perinatal-lethal form of type 2 Gaucher disease (GD).
Kubra Baskin, Eser Aynaci, Ozge Onay Surmeli, M. Munevver Bas   +3 more
doaj   +1 more source