Ichthyosis

Acquired ichthyosis

Genetic Screening

Genetic factors

Genetic Evaluation

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis

Treatment for Ichthyosiform Skin Diseases

A synthetic composition that contains the transglutaminase 1 (TGase I) enzyme and a lipid vesicle, which can be used to provide ameliorative therapy for inherited autosomal recessive ichthyoses (ARI)....

Intraocular lens opacification mimicking the appearance of a congenital lamellar cataract

Intraocular lens opacification mimicking the appearance of a congenital lamellar cataract Eye advance online publication, August 31 2012. doi:10.1038/eye.2012.182 Authors: C Patel, S Hamada...

Semidominant Inheritance in Epidermolytic Ichthyosis

Targeted Sequence Capture and High-Throughput Sequencing in the Molecular Diagnosis of Ichthyosis and Other Skin Diseases

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

deCODE Study Finds Older Dads Pass On More Genetic Mutations

Wall Street Journal | According to the latest publication from Iceland's deCODE Genetics, a sequencing study reveals that older fathers pass on more new genetic mutations to their children than younge...

Study identifies multiple genetic factors impacting development of nearsightedness

In the largest ever genome-wide association study on myopia, 23andMe, the leading personal genetics company, identified 20 new genetic associations for myopia, or nearsightedness. The company also rep...

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.

Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be d...

Clinical presentation and etiology of ichthyoses : Overview of the new nomenclature and classification.

Ichthyoses comprise a heterogeneous group of Mendelian disorders of cornification (MEDOC) affecting the entire skin and characterized by hyperkeratosis and/or scaling. The genetic basis of almost all...

Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling.

Congenital ichthyosis is often associated with typical neonatal phenotypes, "Collodion baby" and "Harlequin foetus", later transforming into severe lamellar or erythro-dermic ichthyosis. However, in a...

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.

Lamellar ichthyosis (LI, MIM# 242300) is a severe autosomal recessive genodermatosis present at birth in the form of collodion membrane covering the neonate. Mutations in the TGM1 gene encoding transg...

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009.

BACKGROUND: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent...