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.
Ettl
A
A
Orbital Center, Academic Medical Center, Amsterdam, The Netherlands.
Marinkovic
M
M
Koornneef
L
L
D000293:Adolescent; D002648:Child; D003937:Diagnosis, Differential; D005138:Eyebrows / Q000473:pathology; D005143:Eyelids / Q000473:pathology; D005145:Face / Q000473:pathology; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000150:complications / Q000175:diagnosis; D006983:Hypertrichosis / Q000150:complications / Q000151:congenital / Q000175:diagnosis*; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D009918:Orbital Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D014057:Tomography, X-Ray Computed