AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS: DIAGNOSIS, MODELING AND APPROACHES TO THERAPY
نویسندگان
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 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...
متن کاملHarlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
Autosomal recessive congenital ichthyoses (ARCI) include several severe subtypes including harlequin ichthyosis (HI), lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma. Patients with these severe types of ichthyoses frequently show severe hyperkeratosis and scales over a large part of the body surface form birth and their quality of life is often severely affected. Recen...
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ژورنال
عنوان ژورنال: ???? ? ??????
سال: 2023
ISSN: ['2500-2562', '2313-1829']
DOI: https://doi.org/10.23868/gc410354