Autosomal recessive congenital ichthyosis

Definition:

Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NBCIE). LI shows more severe phonotype with tight covering of a newborn that is later replaced by large, dark scales. In contrast, NBCIE shows a more pronounced erythroderma with fine, white scaling.

References:

[1]. Anaïs Grall, et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012 Jan 15;44(2):140-7. [Content Brief]

[2]. Caroline Lefèvre, et al. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet. 2006 Mar 1;15(5):767-76. [Content Brief]

[3]. Caroline Lefèvre, et al. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet. 2004 Oct 15;13(20):2473-82. [Content Brief]

[4]. Katja-Martina Eckl, et al. Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol. 2013 Sep;133(9):2202-11. [Content Brief]

[5]. Lisa Heinz, et al. Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. Am J Hum Genet. 2017 Jun 1;100(6):926-939. [Content Brief]

[6]. Masashi Akiyama, et al. An update on molecular aspects of the non-syndromic ichthyoses. Exp Dermatol. 2008 May;17(5):373-82. [Content Brief]

[7]. Masashi Akiyama, et al. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci. 2006 May;42(2):83-9. [Content Brief]

[8]. Peter Kirchmeier, et al. Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis. Acta Derm Venereol. 2017 Jan 4;97(1):102-104. [Content Brief]

[9]. Shirli Israeli, et al. A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet. 2011 Apr 8;88(4):482-7. [Content Brief]

[10]. Yohya Shigehara, et al. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. Hum Mol Genet. 2016 Oct 15;25(20):4484-4493. [Content Brief]

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