Biomaterial Database

Orthopaedic manifestations of neurofibromatosis type 1: A case report. 2022

Florentina Năstase, and Diana Sabina Radaschin, and Elena Niculeț, and Andrei Vlad Brădeanu, and Mădălina Codruța Verenca, and Aurel Nechita, and Valentin Chioncel, and Lawrence Chukwudi Nwabudike, and Liliana Baroiu, and Eduard Drima Polea, and Silvia Fotea, and Lucretia Anghel, and Alexandru Nechifor, and Alin Laurenţiu Tatu

Department of Neuropsychomotor Rehabilitation, 'Sf. Ioan' Clinical Hospital for Children, 800487 Galati, Romania.

Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is one of the most common autosomal dominant genetic diseases. It is characterized by 'café-au-lait' spots and multiple tumors starting from the central and peripheric nervous system. The diagnosis is determined on two out of seven criteria: i) A total of 6 or more light brown spots larger than 5 mm in diameter (pre-puberty) or 15 mm in diameter (post-puberty); ii) a total of 2 or more neurofibromas or one plexiform neurofibroma; iii) axillary or inguinal freckling; iv) optic glioma; v) a total of 2 or more Lisch nodules; vi) bone abnormalities: tibia pseudarthrosis or dysplasia of the sphenoid wing; and vii) a relative of first degree having an NF1 diagnosis. A total of ~50% of patients have significant musculoskeletal manifestation, with scoliosis and congenital pseudarthrosis of tibia most common. Management of the orthopaedic manifestations of NF1 is often difficult. Due to NF1 influencing multiple organ systems, patients are likely to benefit most from a multidisciplinary treatment strategy.