Results 71 to 80 of about 29,876 (307)
Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene [PDF]
, 2020 Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare dermatosis initially described as ‘comedo nevus’ and renamed ‘PEODDN’; it has also been referred to as linear eccrine nevus with comedones, porokeratotic eccrine ostial and hair ...
Alomran, Husain, Kanitakis, Jean
core
Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro [PDF]
, 2019 The Cx26 mRNA has not been reported to undergo alternative splicing. In expressing a series of human keratitis ichthyosis deafness (KID) syndrome mutations of Cx26 (A88V, N14K and A40V), we found the production of a truncated mRNA product.
Cook, Jonathan P. +2 more
core +1 more source
Allergy, EarlyView.Abbreviations: BLOC1S1, biogenesis of lysosome organelles complex 1 subunit 1; cGAS, cyclic GMP‐AMP synthase; GATA3, GATA binding protein 3; IgE, immunoglobulin E; IKK, inhibitor of nuclear factor kappa‐B kinase; IL, interleukin; mtDNA, mitochondrial DNA; NF‐κB, nuclear factor‐kappa B; OVA, ovalbumin; MC903, vitamin D3 analog; STING, stimulator of ...
Rahul Sharma +8 more
wiley +1 more source
Clinical Case ReportsKey Clinical Message Cutaneous scaling and associated clinical syndrome displayed in X‐linked ichthyosis mandates multidisciplinary care. Patient with ichthyosis confronts a numerous challenge to an anesthesiologist and demands a rigorous management.
Sunil Bhatta +3 more
doaj +1 more source
Indian Journal of Paediatric DermatologyObjective: Ichthyosis is a disorder of cornification, which can be acquired or inherited, and encompasses various forms of generalized scaling and superficial roughness of the skin secondary to impaired skin barrier.
Vibhu Mendiratta +4 more
doaj +1 more source
Atypical Presentation of Sjögren-Larsson Syndrome
Case Reports in Pediatrics, 2017 Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal
D. Papathemeli +6 more
doaj +1 more source
Cachexia and Diffuse “Fish-Scale” Skin
Annals of Internal Medicine: Clinical Cases, 2022 Ichthyosis is marked by dry, thickened, scaly skin. It may be genetic or acquired. Importantly, it may be a cutaneous manifestation of an underlying malignancy. Here, we present a striking case of paraneoplastic ichthyosis.
Charith Sairam +2 more
doaj +1 more source
Epidemiology of hypospadias in China: A nationwide surveillance‐based study, 2010–2020
Andrology, EarlyView.Abstract Background The prevalence of hypospadias varied internationally. However, epidemiological data on hypospadias in contemporary China remain limited. Objectives We aim to examine the epidemiological characteristics of hypospadias in Chinese population.
Chen Zhiyu +7 more
wiley +1 more source
Harlequin ichthyosis: The third babies with harlequin ichthyosis in a family [PDF]
Türk Pediatri Arşivi, 2014 To the Editor, The third baby with harlequin ichthyosis (HI) of a family who lost their two babies because of HI previously, but did not receive genetic counselling was presented to emphasize the importance of prenatal diagnosis and genetic counselling.
Mehmet Tekin +3 more
openaire +3 more sources
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan [PDF]
, 2019 Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified,
Ahmad, Jamil +16 more
core +3 more sources