Type I Neurofibromatosis: Case Report and Review of the Literature Focused on Oral and Cutaneous Lesions

Abstract

Neurofibromatosis type 1 (NF1) is a common genetic disease whose dermatological lesions are at the forefront of its development. Cutaneous manifestations include café au lait spots, intertriginous freckling, and neurofibromas which appear during childhood and adolescence and are part of the clinical criteria to diagnose NF1. However, it is only recently that oral manifestations have been highlighted in many studies as frequently associated to NF1. This article aims to review oral and cutaneous manifestations related to NF1 and to report a case of a 51-year-old male with skin and oral neurofibromas related to NF1. Our patient presented with lesions on the gingiva, a rare localization that takes a hypertrophic form mimicking other various pathological conditions. Although not frequent, malignant transformation in NF1, especially regarding plexiform neurofibromas, is well established. Patients with NF1 therefore have regular follow-ups based on clinical examination, as sarcomatous transformation brings an extremely poor prognosis, recurrences and distant metastasis being common.

Skin anomalies in acromegalic patients (Review of the practical aspects)

“…This is not a traditional endocrinopathy of the syndrome, in contrast to pheocromocytomas or somatostatinomas; they may also be associated with other anomalies of the glucose profile that, on a long term, might express on the skin among other complications (31,32). Individuals presenting this autosomal dominant RASopathy may have multiple dermatological anomalies such as café-au-lait macules, neurofibromas of different types with early onset at childhood and adolescence (even oral neurofibromas have been recently reported), nevus anemicus, juvenile xanthogranuloma (a rare condition of non-Langerhans cell histiocytes), and intertriginous freckling (33)(34)(35). Pigmented skin tags are found in individuals diagnosed with GH-producing hypophyseal tumors with lentiginous-like aspects which need to be differentiated from similar skin anomalies in neurofibromatosis type 1 (36).…”

Case report: a child with type 1 neurofibromatosis and intellectual disability

“…6,8 NF-1 is a much more common disease than previously predicted, with an incidence of 1:2000 livebirths and a prevalence of 1/4000. 9, 10 The clinical manifestations can present in various forms. Many patients expressed a mild disease, but more serious complications can develop as the patient ages.…”