The

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images in clinical medicine

Neurofibromatosis
A

Abdulrasheed Ibrahim, M.B., B.S.

Malachy Eneye Asuku, M.B., B.S.
Ahmadu Bello University Teaching
Hospital
Kaduna, Nigeria

26-year-old woman presented with painless nodular skin lesions

that first developed 7 years earlier. Skin nodules initially appeared on the
anterior chest wall and progressed to involve the whole body. Her medical
history and that of her family were unremarkable. Cutaneous and subcutaneous
nodules were more extensive on the upper limbs and the anterior and posterior
trunk (Panels A and B). The size of the nodules ranged from 5 to 40 mm in diameter. She had plexiform neurofibromatosis on the scalp and three caf au lait spots
in the right inguinal region. The results of histologic examination of biopsy specimens from the lesion on her scalp and from an excised nodule on her chest were
consistent with neurofibromatosis. The patient received a diagnosis of neurofibromatosis type 1, a syndrome caused by neurogenic tumors arising from neural sheath
cells located along peripheral and cranial nerves. Inheritance is autosomal dominant, although half of cases are caused by a spontaneous mutation. Clinical findings
can include Lisch nodules of the iris, schwannomas, caf au lait macules, axillary
freckling, optic-nerve gliomas, astrocytomas, multiple neurofibromas, and plexiform neurofibromas; plexiform neurofibromas are associated with an 8 to 12% risk
of malignant degeneration. Surgical excision can be undertaken for cosmetic purposes, but lesions may recur. The patient was offered genetic counseling and is
scheduled for clinical review every 6 months for surveillance of the nodules and any
conditions that may be associated with neurofibromatosis.

Copyright 2011 Massachusetts Medical Society.

2020

n engl j med 365;21 nejm.org november 24, 2011

The New England Journal of Medicine

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