This is an answer to the case – 26 Year Old Woman with Painless Nodular Skin Lesions

A 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. The size of the nodules ranged from 5 to 40 mm in diameter. She had plexiform neurofibromatosis on the scalp and three café 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
  • café au lait macules
  • axillary freckling
  • optic-nerve gliomas
  • astrocytomas
  • multiple neurofibromas
  • 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.