Identifying a Hyperkeratosis Signature in Autosomal Recessive Congenital Ichthyosis: Mdm2 Inhibition Prevents Hyperkeratosis in a Rat ARCI Model
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چکیده
منابع مشابه
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, acral self-healing collodion baby, and bathi...
متن کاملInterleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis.
The autosomal recessive congenital ichthyoses are a family of related diseases, causing a severe defect in the barrier function of the epidermis. Neonates are usually born as collodion babies, but later form scales characteristic of the disease, due to a combination of thickening of the cornified layer and an increase in the production of non-polar lipids. Current treatments of choice are exfol...
متن کاملMolecular Genetics of Autosomal Recessive Congenital Ichthyosis
3 It seems as though I had not drunk from the cup of wisdom, but had fallen into it Søren Kierkegaard To Panu
متن کاملMutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a h...
متن کاملOtologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children.
BACKGROUND Few studies have investigated ear involvement in nonsyndromic autosomal recessive congenital ichthyosis (ARCI). OBJECTIVES To assess the type and frequency of otologic manifestations of ARCI in patients under follow-up at the pediatric dermatology department of our hospital. MATERIALS AND METHODS We prospectively studied the presence of ear pain, ear itching, tinnitus, otitis, ce...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2014
ISSN: 0022-202X
DOI: 10.1038/jid.2013.374