A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation

In a study from 2010, researchers identified a 1286G>A (Arg429His) mutation in the MBTPS2 gene in a Japanese patient with Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome, a condition characterized by a combination of skin, hair, and eye symptoms. This mutation was previously found in a German family and is considered the most severe mutation for IFAP syndrome to date. The 5-year-old Japanese patient exhibited less severe symptoms compared to the German patients, who had additional bone and visceral anomalies and had died young. The Japanese patient's milder clinical features, which included neurological issues but not bone or visceral anomalies except for cryptorchidism, suggest that other factors may influence the severity of IFAP syndrome. The study highlights the need for further research to understand the relationship between the genetic mutations and the variability in clinical presentation of the syndrome.