Malignant schwannoma and late-onset form of neurofibromatosis (NF-VII type) in a patient with skeletal manifestations.
BACKGROUND
Von Recklinghausen's neurofibromatosis is known to occur with markedly variable expressivity. Nevertheless, cases that do not feature characteristic findings are uncommon.


METHODS
We report an extremely rare, sporadic case of neurofibromatosis, exclusively represented in the skeleton of a 49-year-old woman. The late onset of the disease and the absence of common diagnostic criteria permit us to classify it as neurofibromatosis type VII. Additionally, the disease was complicated by early malignant transformation of a thoracic neurinoma, which was removed by a wide local resection. Two years after surgery, the patient developed local recurrence and liver metastases. She died a few months later despite aggressive chemotherapy.
Drews
G
G
Department of Surgery, University of Leipzig, Liebigstr. 20 a, D-04103 Leipzig, Germany.
Emmrich
P
P
Hauss
J
J
Spiegel
H U
HU
D001859:Bone Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D009442:Neurilemmoma / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D017253:Neurofibromatoses / Q000145:classification / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D012272:Ribs