Literature DB >> 16403385

Lamellar ichthyosis.

Frank Victor1, Julie V Schaffer.   

Abstract

A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown, polygonal scales were present on the forehead, lateral aspects of the face, and extremities. The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of lamellar ichthyosis (LI). LI and nonbullous congenital ichthyosiform erythroderma (NBCIE) represent phenotypes at the poles of the autosomal recessive ichthyosis spectrum. Mutations in genes encoding transglutaminase 1 (TGM1), the ABCA12 transporter (ABCA12), ichthyin, lipoxygenase 3 (ALOXE3), and 12(R)-lipoxygenase (ALOX12B) have been shown to underlie both NBCIE and LI.

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Mesh:

Year:  2005        PMID: 16403385

Source DB:  PubMed          Journal:  Dermatol Online J        ISSN: 1087-2108


  1 in total

1.  Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.

Authors:  Lei Zhang; Michael Ferreyros; Weiguo Feng; Melanie Hupe; Debra A Crumrine; Jiang Chen; Peter M Elias; Walter M Holleran; Lee Niswander; Daniel Hohl; Trevor Williams; Enrique C Torchia; Dennis R Roop
Journal:  PLoS One       Date:  2016-08-23       Impact factor: 3.240

  1 in total

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