Results 81 to 90 of about 517,181 (258)

Autosomal Recessive Congenital Ichthyosis

open access: yesActas Dermo-Sifiliográficas (English Edition), 2013
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby ...
Ana Vega   +3 more
openaire   +3 more sources

Ichthyin (NIPAL4)-autosomal recessive congenital ichthyosis with atopic diathesis: Case report and literature review

open access: yesJournal of Dermatology and Dermatologic Surgery, 2016
Autosomal recessive congenital ichthyosis (ARCI), is a rare form of ichthyosis with multiple mutations identified. Ichthyin (NIPAL4) gene mutation is identified in about 18% of cases.
Yousef Binamer
doaj   +1 more source

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

open access: yesOrphanet 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   +4 more
doaj   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff   +8 more
wiley   +1 more source

Obstetrical aspects in congenital ichtyosis [PDF]

open access: yes, 2016
We present a case of congenital ichthyosis because obstetrical literature is scarce and most obstetricians could need a reminder and update. Congenital ichthyosis (CI) comprises a variety of skin disorders characterised by abnormal keratinization of the ...
Dehaene, Isabelle   +2 more
core  

Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia [PDF]

open access: yes, 2017
Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles in several biological processes in skin and other tissues.
Akio Kihara   +51 more
core   +5 more sources

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype

open access: yesLife, 2021
Collodion baby is a congenital, transient phenotype encountered in approximately 70–90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma.
Pálma Anker   +13 more
doaj   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

open access: yesJEADV Clinical Practice, EarlyView.
The clinical interface between dermatology and ophthalmology encompasses a range of disorders affecting both the skin and the eye proper. This letter underscores key autoimmune, metabolic, and genetic conditions with significant ocular involvement that were not highlighted in a prior comprehensive review.
A George
wiley   +1 more source

Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). [PDF]

open access: yes, 1991
The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with ...
Goeteyn, M. (M.)   +4 more
core   +1 more source

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

open access: yesActa 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   +12 more
doaj   +1 more source

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