[Von Recklinghausen's neurofibromatosis (neurofibromatosis type I)--a familial case report]

Neurofibromatosis is a term used for two disorders: NF-1 and NF-2. NF-1 is Von Recklinghasusen's neurofibromatosis and comprises characteristic skin lesions (cafe au lait spots, intertriginous freckles, neurofibromatous skin tumors) and other congenital and hamartomatous bone, endocrine glands and central nervous system lesions. Its incidence is one in every 2500 to 3300 births.

Two female patients, a 20 years old daughter and her mother 46 years of age were admitted to the Clinic of Dermatovenereology in Novi Sad due to appearance of many sessile and pedunculated neurofibromas, cafe au lait spots and freckles on their trunks, axillary and inguinal regions. Laboratory findings showed no abnormalities. Both of them were examined by many specialists. No systemic disturbances were established. The daughter was sent to plastic surgery for operative treatment.

The clinical presentation of NF-1 is very variegated. Beside characteristic skin lesions, other clinical features include skeletal bony abnormalities, mental deficiency, seizures, neurofibromas of the spinal and cranial nerve roots, iris hamartomas, optic nerve gliomas, endocrine disorders, endocrine tissue tumors, other visceral tumors, etc. Some of these disorders can be life-threatening. Malignant transformations of the NF-1 lesions occur approximately in 5% of patients, most often as neurofibrosarcomas, Wilms' tumors, rhabdomyosarcomas or various forms of leukemias.

We present familial cases of Von Recklingausen's neurofibromatosis without systemic abnormalities so far. The clinical course of this disease is unpredictable and a multidiscipline clinical assessment is necessary during whole life.