Results 11 to 20 of about 18,577 (227)

Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature

Children, 2022
Harlequin ichthyosis (HI) is a life-threatening genetic disorder that largely affects the skin of infants. HI is the most severe form of the autosomal recessive disorder known as ichthyosis.
Maria Tsivilika, Dimitrios Kavvadas, Sofia Karachrysafi, A. Sioga, T. Papamitsou   +4 more
semanticscholar   +1 more source

Congenital ichthyosis presentation and outcome - A case series

Journal of Family Medicine and Primary Care, 2023
The ichthyosis, also called disorders of keratinization or cornification, are heterogeneous group of disorders characterized by a generalized scaling of the skin of varying severity.
Qudsiya A. Ansari, Vinaya A. Singh, Kailas G. Randad, Prasoon Bansal   +3 more
doaj   +1 more source

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

JAMA dermatology, 2021
Importance Ichthyoses are clinically and genetically heterogeneous disorders characterized by scaly skin. Despite decades of investigation identifying pathogenic variants in more than 50 genes, clear genotype-phenotype associations have been difficult to
Qisi Sun, N. M. Burgren, S. Cheraghlou, A. Paller, M. Larralde, L. Bercovitch, J. Levinsohn, Ivy Ren, R. Hu, Jing Zhou, T. Zaki, R. Fan, C. Tian, Corey Saraceni, C. Nelson-Williams, E. Loring, B. Craiglow, L. Milstone, R. Lifton, L. Boyden, K. Choate   +20 more
semanticscholar   +1 more source

Development and Initial Validation of a Novel System to Assess Ichthyosis Severity.

JAMA dermatology, 2022
Importance A comprehensive, user-friendly system to assess global ichthyosis disease burden is imperative to improving the care of patients with ichthyosis, identifying appropriate participants for clinical trials, and quantifying treatment outcomes.
Qisi Sun, S. Asch, Cheryl B Bayart, Susan J. Bayliss, L. Benjamin, A. Bruckner, J. DiGiovanna, P. Fleckman, Tracy Funk, A. Lucky, C. Nelson, B. Newell, Ingrid C Polcari, J. Teng, M. Williams, Geliang Gan, Yanhong Deng, A. Paller, K. Choate   +18 more
semanticscholar   +1 more source

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, Dominique J. Wiener, Kaitlin Hopke, Alison Diesel, V. Jagannathan, E. Mauldin, M. Casal, T. Leeb   +7 more
semanticscholar   +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

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

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

A loss of function mutation in the filaggrin gene associated with ichthyosis vulgaris and rheumatoid arthritis

European Journal of Inflammation, 2021
Introduction Mutations in the filaggrin ( FLG ) gene are known to cause ichthyosis vulgaris. Methods We used whole-genome sequencing (WGS) technology to investigate the genetic causes of rare and complex inherited diseases including rheumatoid arthritis,
Xinxin Xu, Qingqing Ma, Mu Lin, Mubo Liu, Chaolin Huang, Jianchao Ying, Jun Ye   +6 more
doaj   +1 more source