Neurofibromatosis type I: Case report

Abstract

We present a case of neurofibromatosis type 1 (NF-1) discussing how cutaneous manifestations of disorders or  syndromes can be difficult to identify, especially when they are present since birth, present also in a  percentage of normal population, and especially when these are isolated findings, not accompanied by other  clinical relevant signs or symptoms. It is well known that NF-1 is a rather heterogeneous condition, with different degrees of expression and including cutaneous manifestations. Although there are some life  threatening complications clearly associated, for most patients the primary concern and main clinical impact remains the disfigurement caused by the presence and growth of cutaneous-dermal neurofibromas. These lesions can be underestimated especially in the impact on quality of life and sequelae that can cause if abnormally large and not removed. We present a clinical history spanning several years, before managing to properly diagnose our patient with neurofibromatosis type 1 and treat the relevant skin manifestation causing significant deformity and quality of life consequences.