Results 81 to 90 of about 517,181 (258)
Autosomal Recessive Congenital Ichthyosis
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
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
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
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]
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]
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
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
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]
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
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