Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate

doi:10.3315/jdcr.2015.1202

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Research Article | Volume 10 Issue 2 (None, 2016) | Pages 49 - 51

Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate

Chiara De Leonibus

Claudio Lembo

Alfredo Santantonio

Tiziana Fioretti

Silvana Rojo

Francesco Salvatore

Massimiliano De Vivo

Gabriella Esposito

Paolo Giliberti

Under a Creative Commons license

Open Access

DOI : 10.3315/jdcr.2015.1202

PMID : PMC4517804

Received

Feb. 4, 2015

Published

June 30, 2015

Abstract

Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene found in 50% of patients. An early diagnosis is fundamental in view of establishing a specific treatment due to the severity of the disease. We report a case of severe lamellar ichthyosis and arthrogryposis, without the typical facial presentation, negative for TGM1 mutations. The clinical improvement was achieved only after treatment with oral retinoids, highlighting the importance of early diagnosis and prompt administration of a specific therapy.

Keywords

Autosomal recessive congenital ichthyoses

Congenital ichthyoses

Lamellar ichthyosis

Oral acitretin

Transglutaminase-1 gene mutations

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