Huge plexiform neurofibroma of the head and liver--case report.
Neurofibromatosis (NF) is a hereditary autosomal dominant disorder. Von Recklinghausen first described NF in 1882, which is now classified as Neurofibromatosis 1 (NF-1). NF-1 is the most commonly encountered NF which affects 1 in 4000 persons. Clinical manifestations of NF-1 include: generalized cutaneous neurofibroma, pigmented skin patches (cafe-au-lait spots), pigmented iris hamartoma (Lisch nodules), skeletal abnormally, CNS tumors, etc. The subject of this case study is a young adult male with a huge plexiform neurofibroma involving both the liver and head regions. The head tumor measured 10 x 8 x 3.5 cm3 in size, weighted approximately 180g with overlying hyperpigmented skin and an underlying congenital skull defect. A CT scan and MRI of the head and neck revealed a well defined lobulated tumor and deformed external ear. A abdominal sonogram, CT scan and MRI showed a huge plexiform neurofibroma with liver invasion. Lisch nodules and multiple cafe-au-lait spots were also found. Surgical removal of the head tumor along with an external ear reconstruction was performed. Satisfactory cosmetic results and improved hearing were achieved.
Chen
T C
TC
Department of Otolaryngology Head and Neck Surgery, Kaohsiung Medical College Hospital, Taiwan, Republic of China.
Kuo
W R
WR
Chai
C Y
CY
Juan
K H
KH
D000293:Adolescent; D006258:Head and Neck Neoplasms / Q000473:pathology* / Q000628:therapy; D006801:Humans; D008113:Liver Neoplasms / Q000473:pathology* / Q000628:therapy; D008297:Male; D009455:Neurofibroma / Q000473:pathology* / Q000628:therapy; D011379:Prognosis; D012867:Skin / Q000473:pathology; D009626:Terminology as Topic