Ichthyosis prematurity syndrome (IPS) (OMIM #608649) is a rare autosomal recessively inherited syndromic ichthyosis characterized by prematurity and respiratory distress, a thick vernix caseosa-like material and transient eosinophilia. Ichthyosis manifestations rapidly improve, while the majority of patients develop atopy signs and increased levels of IgE (1, 2). The disease gene, SLC27A4, encodes the fatty acid transporter protein 4 (FATP4), a member of the FATP family involved in fatty acid trafficking (2), expressed in the epidermis. IPS is observed mainly in Scandinavian countries, but isolated cases have been described worldwide (1-8). We report here the first molecular characterization of an Italian case of IPS.
Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient
Novelli, Antonio;
2018-01-01
Abstract
Ichthyosis prematurity syndrome (IPS) (OMIM #608649) is a rare autosomal recessively inherited syndromic ichthyosis characterized by prematurity and respiratory distress, a thick vernix caseosa-like material and transient eosinophilia. Ichthyosis manifestations rapidly improve, while the majority of patients develop atopy signs and increased levels of IgE (1, 2). The disease gene, SLC27A4, encodes the fatty acid transporter protein 4 (FATP4), a member of the FATP family involved in fatty acid trafficking (2), expressed in the epidermis. IPS is observed mainly in Scandinavian countries, but isolated cases have been described worldwide (1-8). We report here the first molecular characterization of an Italian case of IPS.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
