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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
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Under a Creative Commons license
Open Access
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.

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