Results 31 to 40 of about 31,665 (304)

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis. [PDF]

Front Immunol
Sefer AP, Catak MC, An I, Keser Ozturk N, Baykal Selcuk L, Dincer OS, Benamar M, Getachew F, Schmitz-Abe K, Agrawal PB, Bayram Catak F, Erman B, Bilgic Eltan S, Karakoc Aydiner E, Ozen A, Chatila T, Baris S.   +16 more
europepmc   +2 more sources

Ichthyosis Prematurity Syndrome Caused by a Novel Homozygous SLC27A4 Mutation in Two Emirati Siblings. [PDF]

Cureus
Almarzooqi S, Salvo F.
europepmc   +3 more sources

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

American Journal of Human Genetics, 2017
Lisa Heinz, Slaheddine Marrakchi, Hamida Turki   +2 more
exaly   +2 more sources

Quality of life among pediatric patients and their families suffering from congenital ichthyosis - A cross-sectional study

Indian Journal of Paediatric Dermatology, 2022
Introduction: Ichthyosis are a heterogeneous group of hereditary skin disorders characterized by dryness, hyperkeratosis, and desquamation. The purpose of this study was to evaluate quality of life (QoL) of patients with ichthyosis and their families ...
Priyanka Hemrajani, B C Sharath Kumar, Mona Sharma   +2 more
doaj   +1 more source

ABHD5 frameshift deletion in Golden Retrievers with ichthyosis

G3, 2021
Ichthyoses are hereditary skin disorders characterized by the formation of scales and defects in the outermost layer of the epidermis. In dogs, at least six different breed-specific ichthyoses including a relatively common PNPLA1-related autosomal ...
S. Kiener, D. Wiener, Kaitlin Hopke, Alison Diesel, V. Jagannathan, E. Mauldin, M. Casal, T. Leeb   +7 more
semanticscholar   +1 more source

Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling

Acta Dermato-Venereologica, 2021
Data on vitamin D status of patients with inherited ichthyosis in Europe is scarce and unspecific concerning the genetic subtype. This study determined serum levels of 25-hydroxyvitamin D3 (25(OH)D3) in 87 patients with ichthyosis; 69 patients were ...
Mi-Ran Kim, Vinzenz Oji, Frederic Valentin, Heiko Traupe, Jerzy-Roch Nofer, Ingrid Hausser, Hans Christian Hennies, Katja Eckl, Stefan A. Wudy, Alberto Sánchez-Guijo, Laura Kerschke, Judith Fischer, Kira Süßmuth   +12 more
doaj   +1 more source

Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

British Journal of Dermatology, 2021
Recently, mutations in Adaptor Related Protein Complex 1 Subunit Beta 1 (AP1B1) have been identified as the cause of a new form of syndromic ichthyosis, which is characterized by neonatal onset of ichthyosis, erythroderma and deafness accompanied by ...
J. Vornweg, S. Gläser, M. Ahmad-Anwar, A. Zimmer, M. Kuhn, S. Hörer, G. Korenke, J. Grothaus, H. Ott, J. Fischer   +9 more
semanticscholar   +1 more source

Harlequin ichthyosis newborn: A case report

SAGE Open Medical Case Reports, 2022
Harlequin ichthyosis is a rare and severe genetic skin disorder that occurs within the developing foetus. Harlequin ichthyosis is the most severe and devastating form of autosomal recessive congenital ichthyoses.
Maryam Nikbina, Masoumeh Sayahi
doaj   +1 more source

Skin permeability barrier formation by the ichthyosis-causative gene FATP4 through formation of the barrier lipid ω-O-acylceramide

Proceedings of the National Academy of Sciences of the United States of America, 2020
Significance Acylceramide is essential for skin permeability barrier formation. However, its biosynthesis pathway has not yet been elucidated in its entirety.
Haruka Yamamoto, Miku Hattori, W. Chamulitrat, Yusuke Ohno, A. Kihara   +4 more
semanticscholar   +1 more source

Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents

Pediatric dermatology, 2020
Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for long‐term use of retinoids for these disorders, often beginning in childhood, numerous clinical concerns must be ...
A. Zaenglein, M. Levy, N. Stefanko, L. Benjamin, A. Bruckner, K. Choate, B. Craiglow, J. DiGiovanna, L. Eichenfield, P. Elias, P. Fleckman, L. Lawley, R. Lewis, A. Lucky, E. Mathes, L. Milstone, A. Paller, Sonali S. Patel, D. Siegel, J. Teng, S. Tanumihardjo, L. Thaxton, M. Williams   +22 more
semanticscholar   +1 more source