Hairlessness, skin changes, a strong hypersensitivity to light: these are the symptoms of the so-called IFAP syndrome. Scientists from the universities of Beijing, Hamburg and Bonn have now identified a genetic defect that triggers the rare disorder. The results have been published in the "American Journal of Human Genetics". IFAP syndrome is very rare; Probably not even 100 people in Germany suffer from this congenital disorder. Those affected are sparsely hairy to complete hairlessness, even eyebrows and eyelashes may be missing. The skin is often keratinized; Sunlight or strong artificial light hurts the eyes. The abbreviation "IFAP" stands for the medical names of these three key symptoms.
In the medium term, the study could also open up new ways of treating IFAP syndrome. Perhaps, for example, the lack of cholesterol in the skin can be improved by special fatty ointments. However, further studies have to show whether this really works. The results already provide an insight into the diverse processes that must work together for the healthy development of skin and hair.
Publication
Huijun Wang u.a.: Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal Dominant IFAP Syndrome; American Journal of Human Genetics; DOI: https://doi.org/10.1016/j.ajhg.2020.05.006
Associated cluster scientists: Regina Betz
