Isaac Roberts

Delayed diagnosis of neurofibromatosis type I with an index presentation of haemothorax

Abstract Neurofibromatosis type I (NF1) is an autosomal dominant condition that typically presents with cutaneous features, including neurofibromas and Lisch nodules. At the time of writing, vasculopathies are not part of the updated diagnostic criteria. We present the case of a 36-year-old woman with sudden-onset ches...