There are at least 38 mutant genes known to be associated with the ichthyosis phenotypes, and autosomal recessive congenital ichthyosis (ARCI) is a specific subgroup caused by mutations in 13 different genes. Mutations in some of these genes, such as CERS3 with only two previous reports, are ...
美[ˌɪkθɪ'oʊsɪs] 英[ˌɪkθɪ'əʊsɪs] n.【医】鱼鳞癣 网络鱼鳞病;第一节鱼鳞病;鱼鳞癣症 英汉 英英 网络释义 n. 1. 【医】鱼鳞癣 释义: 全部,鱼鳞癣,鱼鳞病,第一节鱼鳞病,鱼鳞癣症
Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). A first...
1 . On admission he was found to have widespread congenital ichthyosis . 入院时发现,其身体多处患有先天性鳞癣,热度已消,但颈部、下和腹股沟淋巴腺仍肿大,脾缘可触及. 来自互联网 2 . Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) . 丑角...
Also known as bullous congenital ichthyosiform erythroderma. Hereditary ichythoses are subcategorized into autosomal recessive types and those with other inheritance patterns. The congenital autosomal recessive ichythyoses encompass three distinct but related disorders with overlapping phenotypes; lamellar icht...
Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder. Affected babies are born in a collodion membrane, a shiny, waxy-appearing outer layer to the skin. This is shed 10–14 days after birth, revealing the main symptom ...
Severe form of congenital ichthyosis, characterized by profound thickening of the keratin layer in fetal skin, producing a horny shell of platelike scale and contraction abnormalities of the eyes, ears, mouth, and appendages Pathogenesis Probable autosomal recessive trait; abnormal lamellar granule struct...
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1 Larizza D, Salvatore F (2009) Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1... G Esposito,FD Falc...
ichthyosis linea´ris circumflex´aa congenital autosomal recessive disorder present at birth, characterized by the presence of generalized redness and scaling of the skin associated with migratory lesions andhyperhidrosisof the palms and soles. ...
是什么意思 n. 鱼鳞癣; 英英释义 ichthyosis[ ,ikθi'əusis ] n.any of several congenital diseases in which the skin is fishlike (dry and scaly) 学习怎么用 双语例句 用作名词(n.) Because the case was not associated with ichthyosis or epidermal nevus, we think it best fits into the cat...