Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.
نویسندگان
چکیده
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; Tomita, Yuki; Shimizu, Hiroshi Citation Journal of Investigative Dermatology, 127(11): 2669-2673 Issue Date 2007-11 Doc URL http://hdl.handle.net/2115/32351 Right Nature Publishing Group, Journal of Investigative Dermatology, vol. 127, issue 11, 2007, pp. 2669‒2673 Type article (author version)
منابع مشابه
Bullous 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 کاملThe 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 ...
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...
متن کاملA Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with the disease. Exome sequencing data for two affected individuals with ichthyosis from two apparently unrelated consanguineous Pakistani families was analysed. Potential candidate mut...
متن کاملHomozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
Non-bullous congenital ichthyosiform erythroderma (NBCIE) is a hereditary disorder of keratinization caused by pathogenic variants in genes encoding enzymes important to lipid processing and terminal keratinocyte differentiation. Impaired function of these enzymes can cause pathologic epidermal scaling, significantly reduced skin barrier function. In this study, we have performed a focused, gen...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- The Journal of investigative dermatology
دوره 127 11 شماره
صفحات -
تاریخ انتشار 2007