Lamellar ichthyosis and arthrogryposis in a premature neonate

Chiara De Leonibus, Claudio Lembo, Alfredo Santantonio, Tiziana Fioretti, Silvana Rojo, Francesco Salvatore, Massimiliano Devivo, Gabriella Esposito, Paolo Giliberti

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)49-51
Number of pages3
JournalJournal of Dermatological Case Reports
Volume9
Issue number2
DOIs
Publication statusPublished - Jun 30 2015

Keywords

  • Autosomal recessive congenital ichthyoses
  • Congenital ichthyoses
  • Lamellar ichthyosis
  • Oral acitretin
  • Transglutaminase-1 gene mutations

ASJC Scopus subject areas

  • Dermatology

Fingerprint Dive into the research topics of 'Lamellar ichthyosis and arthrogryposis in a premature neonate'. Together they form a unique fingerprint.

  • Cite this

    De Leonibus, C., Lembo, C., Santantonio, A., Fioretti, T., Rojo, S., Salvatore, F., Devivo, M., Esposito, G., & Giliberti, P. (2015). Lamellar ichthyosis and arthrogryposis in a premature neonate. Journal of Dermatological Case Reports, 9(2), 49-51. https://doi.org/10.3315/jdcr.2015.1202