Neurofibromatosis (NF) is an autosomal dominantly inherited disease, commonly manifested in the skin, nervous
system and eyes. The disease can be divided into subtypes according to clinical findings as NF type 1 (NF1) and
type 2 (NF2). The responsible gene was determined on 17th chromosome for NF1 and on 22nd chromosome for
NF2. The prevalence has been estimated at 1/3000 for NF1 and at 1/50000 for NF2 in new borns.
A 36 year-old woman was admitted to our department with the complains of pigmented macules and soft,
elevated lesions. Her two children bore pigmented lesions on the skin like the mother. All of the three patients
had Crowe’s sign and the mother had ten neurofibromas in different parts of the body. Routine blood analyses,
roentgenograms, cranial magnetic resonance imaging results and the neurologic examination were withın normal
limits. In the ophtalmological examination bilateral Lish nodules were determined. In the histopathologic
examination, the soft elevated lesions of mother were diagnosed as plexiform neurofibromas. According to these
findings all three patients were diagnosed as NF1. The mother was administered ketotifene 2 mg/day.
In this paper a mother and her two children with NF1 were presented and the clinical findings of the disease
were discussed.
Key words: Neurofibromatosis (NF)
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