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.

Lamellar ichthyosis and arthrogryposis in a premature neonate / Chiara De, Leonibus; Claudio, Lembo; Alfredo, Santantonio; Tiziana, Fioretti; Silvana, Rojo; Francesco, Salvatore; Massimiliano De, Vivo; Esposito, Gabriella; Paolo, Giliberti. - In: JOURNAL OF DERMATOLOGICAL CASE REPORTS. - ISSN 1898-7249. - 9:2(2015), pp. 49-51. [10.3315/jdcr.2015.1202]

Lamellar ichthyosis and arthrogryposis in a premature neonate

ESPOSITO, GABRIELLA;
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.
2015
Lamellar ichthyosis and arthrogryposis in a premature neonate / Chiara De, Leonibus; Claudio, Lembo; Alfredo, Santantonio; Tiziana, Fioretti; Silvana, Rojo; Francesco, Salvatore; Massimiliano De, Vivo; Esposito, Gabriella; Paolo, Giliberti. - In: JOURNAL OF DERMATOLOGICAL CASE REPORTS. - ISSN 1898-7249. - 9:2(2015), pp. 49-51. [10.3315/jdcr.2015.1202]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/610792
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