Neurofibromatosis in a family: is there a tendency to one side of the face?

摘要

Neurofibromatosis type 1 (NF-1), first described by Von Recklinghausen (1832), is an autosomal dominant disease caused by a spectrum of mutations in the NF-1 gene. Prevalence in the general population is approximately 1/3000 births.Three patients from the same family (mother, son and daughter) were admitted to our department with a mass on the right side of their faces. The son was the second child, the daughter was the third child of the family, the mother had NF-1, but the father did not show any sign of the disease. The most important finding of the mother and daughter was the saggy swelling, unlike the son who had diffused swelling (Figure 1). Their masses had developed since early childhood. Surgical treatment was applied to both mother and daughter for tumour reduction. Due to the high risk of possible facial nerve damage, surgery was not carried out on the son and further follow up was suggested. Within a follow-up period of 2 years there was no progression of the swelling of the patients.