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Neurofibromatosis 1 Diagnosed in Mother only after a Follow-up of Her Daughter

Publication at Second Faculty of Medicine |
2019

Abstract

We present the case of a mother and daughter diagnosed in our unit with neurofibromatosis 1 (NF-1). The diagnosis was first made in our Plastic Surgery Department, and, surprisingly, the daughter was diagnosed first.

We find it both interesting that the mother and daughter have very different course of disease and disturbing that the diagnosis was not made earlier, which could have led to better results with a significantly smaller emotional burden on the patient.