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DOI: 10.1055/s-2004-825851
Neurofibromatose Typ 1 - Klinik und Genetik (Synonym: Morbus von Recklinghausen)
Neurofibromatosis Type 1 - Clinics and GeneticsPublication History
Publication Date:
30 August 2004 (online)
Zusammenfassung
Die Neurofibromatose Typ 1 ist eine der häufigsten hereditären neurokutanen Erkrankungen, die wie auch ihre klinisch bekannten Varianten autosomal dominant vererbt wird. Die Diagnose beruht auf sieben Konsensus-Kriterien des National Institute of Health (1988). Wir berichten im Folgenden über 2 Patientinnen, die mit typischen kutanen, okulären und ossären Symptomen in unserer Klinik erstmals an Neurofibromatose Typ 1 erkrankt diagnostiziert wurden. Die Klinik, die diagnostischen Kriterien sowie der genetische Hintergrund der Neurofibromatose Typ 1 sind im Folgenden dargestellt.
Abstract
Neurofibromatosis is one of most common inherited autosomal dominant neurocutaneous diseases which displays certain typical clinical characteristics. The diagnosis is based on seven criteria set up the National Institutes of Health Consensus Development Conference (1988). We describe in the following two cases of neurofibromatosis type 1 which were first diagnosed in our clinic. Both patients had the cutaneous, ocular and osseous symptoms which are typical for this disease. In this report we present the clinical aspects, the diagnostic criteria as well the genetic backround of neurofibromatosis type 1.
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Dr. med. Anette Zimpfer
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