Portal de Periódicos da CAPES

Lamellar ichthyosis and arthrogryposis in a premature neonate

2015; Volume: 9; Issue: 2 Linguagem: Inglês

10.3315/jdcr.2015.1202

1898-7249

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

Cell Adhesion Molecules Research

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.(