ABSTRACT

Neurofibromatosis (NF) is an autosomal dominant, multisystem disorder affecting neurological and skeletal system, skin and soft tissues. There are 2 major subtypes named NF1 and NF2. Plexiform neurofibroma (PNF), which is a rare nerve sheath tumor, may be seen in about 50 % of patient with NF as an important diagnostic hallmark. The size and location of PNFs may vary. Deformities and impairment of function may be observed when they are localized on extremities. As seen in our case, massive hand involvement may be an interesting manifestation of NF.

In this report we present a 49-years-old male patient with massive PNF, involving right hand for many years. The size of the painless lesion was stable for a long time. His daughter has been previously diagnosed as NF1. In the dermatological examination of the patient, multiple cafe au lait macules, neurofibromas, and bilateral axillary freckles are also observed. His neurological and ophthalmologic examinations were normal. Depending on these findings, he was diagnosed as NF1. The magnetic resonance imaging of the hand revealed a large conglomeration of mass consistent with PNF in the right palmar region extending to the dorsum between the second and third digits at the level of metacarpal bodies and heads, along with the trace of median nerve. The functions of the hand and fingers were not affected and it was only a cosmetic problem for the patient. Since the patient did not accept to have an operation for the lesion, he was told to come to regular follow-ups.