Localized hypertrichosis associated with periorbital neurofibroma: clinical findings and differential diagnosis.

Background: Congenital localized hypertrichosis in the periorbital region is an uncommon finding. The authors report two patients with hypertrichosis and cutaneous hyperpigmentation overlying a periorbital neurofibroma.

Methods: In addition to a complete ophthalmic and systemic examination, the patients underwent computed tomography of the head and biopsy of the tumor.

Results: Case 1 previously had received a diagnosis of neurofibromatosis type I. On examination, hyperpigmentation, hypertrichosis, and swelling in the right supraorbital region were noted. A computed tomographic scan showed a tumor in the same region. The tumor was removed, and a plexiform neurofibroma was diagnosed. Case 2 was admitted with hyperpigmentation, hypertrichosis, and swelling of the left half of her face. Other signs of neurofibromatosis were absent. A computed tomographic scan showed a tumor, which was underlying the skin changes. Results of histologic examination of the biopsy specimen showed a plexiform neurofibroma.

Conclusions: Neurofibroma-associated hypertrichosis should be considered in the differential diagnosis of congenital localized hypertrichosis.