ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay.
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چکیده
منابع مشابه
The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis
ABCA12 is a member of the large superfamily of ATP-binding cassette (ABC) transporters, which bind and hydrolyze ATP to transport various molecules across limiting membranes or into vesicles. The ABCA subfamily members are thought to be lipid transporters. ABCA12 is a keratinocyte transmembrane lipid transporter protein associated with the transport of lipids in lamellar granules to the apical ...
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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...
متن کاملNovel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.
Title Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia Author(s) Natsuga, Ken; Akiyama, Masashi; Kato, Naoko; Sakai, Kaori; Sugiyama-Nakagiri, Yoriko; Nishimura, Machiko; Hata, Hiroo; Abe, Masataka; Arita, Ken; Tsuji-Abe, Yukiko; Onozuka, Takashi; Aoyagi, Satoru; Kodama, Kazuo; Ujiie, Hideyuki; ...
متن کاملBullous ichthyosiform erythroderma
Bullous ichthyosiform erythroderma (BIE) is a rare disorder of keratinization (mutations in either keratin 1 or 10). It typically presents with fragile skin, which gives way to gradual evolutionof hyperkeratosis. Flaccid blisters, peeling, and superficial erosions at sites of minor trauma or friction are apparent within the first few hours of life. Yellow-brown, waxy, ridged or corrugated...
متن کاملAutosomal 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...
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عنوان ژورنال:
- Acta dermato-venereologica
دوره 95 6 شماره
صفحات -
تاریخ انتشار 2015