Neurofibromatosis type 1: a clinical case

Neurofibromatosis, a neurocutaneous syndrome (syndrome with neurologic and cutaneous manifestations), refers to a heterogeneous group of inherited disorders of the tumor growth suppression mechanism characterized by multiple benign and malignant skin and nervous system tumors. This condition has a variety of extracutaneous manifestations: cardiovascular, gastrointestinal, ophthalmologic, orthopedic, etc., and each of them significantly reduces the quality of life and affects the prognosis of the disease. A distinction is made between neurofibromatosis type 1 (formerly known as von Recklinghausen’s disease), neurofibromatosis type 2, and schwannomatosis, which once was considered a variant of neurofibromatosis type 2 but is now considered a distinct type of disease. All types of neurofibromatosis are genetically determined, autosomal dominant disorders, but each variant differs in the spectrum of tumors and the set of mutated genes responsible for specific clinical manifestations. Due to the rarity of this condition, diagnosis is often difficult for practitioners, especially in children. We present a clinical case demonstrating the cutaneous, ophthalmologic, and orthopedic patterns of neurofibromatosis type 1 with the distinctive features of a challenging diagnostic search. A multidisciplinary approach to this condition is necessary.