Beata Bergler-Czop, Ligia Brzezińska-Wcisło, Dorota Trzmiel
Am J Case Rep 2010; 11:214-217
Background: Neurofibromatosis is a group of genetic disorders. The most common is NFA-1 – neurofibromatosis type 1 – peripheral form (Recklinghausen disease) or neurofibromatosis type 2 – hearing loss.
Case Report: We present the case of a 34-year-old woman. The first changes appeared as soft, pedunculated tumours in puberty. In 2009, the patient was admitted to the Dermatology Department in Katowice in order to perform a first complete diagnostic of changes in organs in the course of NFA-1.
On a day of admission, multiple, soft, non-painful, coloured skin-like to brown tumours and nodules could be observed on her whole body, and multiple changes were pedunculated. The skin across her entire body was light-olive coloured. The patient described slight itching. Both axillary fossa showed multiple small cafe-au-lait spots. The right side of the trunk showed the presence of a large cafe-au- lait spot. Laboratory tests, imaging, neurological and laryngological consultations showed no deviations from the norm. The ophthalmological examination showed the presence of 2 Lisch nodules.
Conclusions: We describe a case of NFA-1 in the patient, who despite the typical course and appearance of the skin changes, and a positive family history, had not been informed about the likely diagnosis of a genetic syndrome and its resulting consequences.
Keywords: Congenital malformation , Genotype, skin