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The authors report the case of a 56-year-old male patient with neurofibromatosis type 1 (NF1) diagnosed during adolescence and with an insidious clinical evolution, characterised by an exuberant cutaneous involvement, referred to the orthopaedics outpatient clinic presenting with carpal tunnel syndrome secondary to a plexiform neurofibroma of the median nerve. A comprehensive clinical approach is discussed, considering the natural history of the disease and its potential complications, as well as the lack of consensus regarding standard therapeutic options for the compressive peripheral neuropathies in the NF1 disease.

Carpal tunnel syndrome due to a plexiform neurofibroma of the median nerve in a neurofibromatosis type 1 patient: clinical approach