ABSTRACT

Objective

Neurofibromatosis (NF) is one of the most commonly seen autosomal dominantly inherited neurocutaneous syndromes. The most common subtypes are NF1 and NF2. The clinical course of NF may be heterogeneous.In this study, clinical features of patients with NF and its rare manifestations were described.

Methods:

Records of 11 patients with NF diagnosed between May 2008 and August 2011 were retrospectively reviewed. Demographic and clinical features of patients were detailed.

Results:

Six female and 5 male patients were enrolled. Patients' ages ranged between 1.5 and 58 years. Seven of them had positive family history for NF. A 1.5-year-old baby presented early appearance of Lisch nodules. One female patient had unilateral segmentally distributed pigmentary macules with bilateral Lisch nodules. Severe scoliosis and multiple painful neurofibromas were observed in a male patient. An asymptomatic arachnoid cyst was detected incidentally in a female patient. A male patient with NF1 had diffuse large B cell lymphoma and glioblastoma multiforme.

Conclusion

Patients with NF may present with diverse clinical manifestations. Since patients may first apply to a dermatology outpatient clinic with only cutaneous complaints, early diagnosis of NF both in the patients and in their first degree relatives by careful dermatological and ophthalmological examinations and radiological evaluations can be possible