title: [The Netherton syndrome: clinical characteristics, differential diagnosis and new ways of therapy].
abstract: The Netherton-syndrome is a rare disease which is probably inherited through an autosomal recessive trait. It is defined by a triad of symptoms: congenital ichthyosiform erythrodermia , trichorrhexis invaginata et nodosa ("bamboo hair") and atopy. Additional disorders affect the immune system, the metabolism of amino acids and the physical development. On the basis of a new case, the cellular immune defect and the genetic background of the disease are more clearly defined. A new form of treatment--a combination of photochemotherapy (PUVA) and systematic application of aromatic retinoid--has so far proved to be successful. In order to establish an accurate diagnosis--a prerequisite for this promising therapeutic approach--diseases with similar symptoms are discussed for comparison.
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D006201:Hair Diseases / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000150:complications* / Q000188:drug therapy* / Q000235:genetics; D008297:Male; D011701:PUVA Therapy; D010778:Photochemotherapy; D013577:Syndrome
vernacular_title: Das Netherton-Syndrom: Klinische Charakteristik, differential-diagnostische Abgrenzung und neue Wege der Therapie.