Results 11 to 20 of about 31,665 (304)

Ichthyosis vulgaris: An updated review

Skin Health and Disease, 2023
Ichthyosis vulgaris is an inherited, non‐syndromic form of ichthyosis that presents with skin problems. Making up more than 95% cases of ichthyosis, ichthyosis vulgaris is caused by heterozygous loss‐of‐function mutation of the filaggrin gene, raising ...
Huda Jaffar, Zobia Shakir, Gaurav Kumar, Iman Fatima Ali   +3 more
doaj   +2 more sources

New developments in the molecular treatment of ichthyosis: review of the literature

Orphanet Journal of Rare Diseases, 2022
Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made.
M. D. W. Joosten, J. M. K. Clabbers, N. Jonca, J. Mazereeuw-Hautier, A. H. Gostyński   +4 more
doaj   +2 more sources

Harlequin ichthyosis: A case image from Syria [PDF]

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   +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

Prevalence of inherited ichthyosis in France: a study using capture-recapture method [PDF]

, 2014
International audienceBACKGROUND:Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described.
Barbarot, Sebastien, Chiaverini, Christine, Chouquet, Cécile, Dreyfus, Isabelle, Dupuis, Jérôme, Ezzedine, Khaled, Henner, Sophie, Mallet, Stephanie, Martin, Ludovic, Maza, Aude, Mazereeuw-Hautier, Juliette, Pascal, Sandrine, Rodriguez, Lauriane, Vabres, Pierre   +13 more
core   +5 more sources

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report [PDF]

Journal of Medical Case Reports, 2017
Background X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes.
Amna Malik, Ahmed Bait Amer, Mohammed Salama, Bander Haddad, Muhammad T. Alrifai, Mohammed Al Balwi, William Davies, Wafaa Eyaid   +7 more
doaj   +5 more sources

[Ichthyosis vulgaris].

Ugeskrift for laeger, 2020
Ichthyosis – also called fish scale disease – is a group of skin diseases, which are characterised by xerosis and scaling. Most commonly, the diseases are genetically inherited, but an acquired type also exists. Ichthyosis vulgaris (IV), is the most common type, affecting 1:250 individuals.
Dorf, Inger Lily, Koppelhus, Uffe, Sommerlund, Mette   +2 more
openaire   +4 more sources

Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis

Acta Dermato-Venereologica, 2020
The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically heterogeneous group of diseases which can be divided into syndromic and non-syndromic forms.
J. Uitto, L. Youssefian, A. Saeidian, H. Vahidnezhad   +3 more
semanticscholar   +3 more sources

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency [PDF]

Journal of Clinical Investigation, 2017
Connolly, Anne M, Cooper, Megan A, Dharnidharka, Vikas R, et al,, Willing, Marcia C   +4 more
core   +3 more sources

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

PLoS ONE, 2017
Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin.
M. Casal, Ping Wang, E. Mauldin, Gloria Lin, P. Henthorn   +4 more
semanticscholar   +3 more sources