title: Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate.
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.
authors.affiliation: Neonatal Intensive Care Unit, V. Monaldi Hospital, Naples, Italy;
authors.forename: Chiara
authors.initials: C
authors.lastname: De Leonibus
authors.affiliation: Dermatology Department, University Federico II, Naples, Italy;
authors.forename: Claudio
authors.initials: C
authors.lastname: Lembo
authors.affiliation: Neonatal Intensive Care Unit, V. Monaldi Hospital, Naples, Italy;
authors.forename: Alfredo
authors.initials: A
authors.lastname: Santantonio
authors.affiliation: Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy;
authors.forename: Tiziana
authors.initials: T
authors.lastname: Fioretti
authors.affiliation: Neonatal Intensive Care Unit, V. Monaldi Hospital, Naples, Italy;
authors.forename: Silvana
authors.initials: S
authors.lastname: Rojo
authors.affiliation: CEINGE-Biotecnologie Avanzate s.c. a r.l., Naples, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Salvatore
authors.affiliation: Neonatal Intensive Care Unit, V. Monaldi Hospital, Naples, Italy;
authors.forename: Massimiliano
authors.initials: M
authors.lastname: De Vivo
authors.affiliation: Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy; ; CEINGE-Biotecnologie Avanzate s.c. a r.l., Naples, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Esposito
authors.affiliation: Neonatal Intensive Care Unit, V. Monaldi Hospital, Naples, Italy;
authors.forename: Paolo
authors.initials: P
authors.lastname: Giliberti
keywords: autosomal recessive congenital ichthyoses; congenital ichthyoses; lamellar ichthyosis; oral acitretin; transglutaminase-1 gene mutations