An Unusual Case of Multiple Intraoral Manifestations of Neurofibromatosis Type 1: Case Report with Literature Review

Abstract

A 50-year-old female was referred to the Department of Prosthodontics, KMCT Dental College, Manassery, Kozhikode, Kerala, India for prosthetic rehabilitation of oral cavity. She had short stature, and was moderately built and nourishment for her age. The general clinical examination revealed multiple cutaneous nodules of different sizes ranging from 2mm to 6 cm unevenly distributed over the head and neck, trunk and upper arms [Table/ Fig-1a-c]. The nodules were soft, flesh coloured, non tender, with no signs of inflammation. A large number of both cutaneous and subcutaneous neurofibromas were scattered over the entire patient's skin. Lymph nodes were not enlarged. More than 10 café-au-lait spots were noted on the trunk and upper arms which were flat and brown pigmented. Freckles could be seen diffusely over the back and axillary region. The patient reported that some pigmented lesions were present at birth and the other ones appeared when she was a child, nodules began to develop in puberty and increased during the pregnancy. There was no family history of neurofibromatosis. Hers was a non consanguineous marriage, and her parents were also unrelated. Written consent was obtained from the patient to avoid ethical conflicts in documenting and publishing her case.Extraorally, she had mild prognathism of the mandible. Isolated nodules of few millimeter sizes were seen on the upper and the lower lip. Intraorally isolated nodule on the dorsum of tongue was noted [Table/ Fig-1a,2]. There were multiple bilaterally distributed nodules on edentulous alveolar ridges of maxilla and mandible which were non-ulcerated, non painful with normal color and firm on palpation [Table /Fig-3a]. The nodules were also present on the palate [Table / Fig-3b]. There were no symptoms associated with the nodules other The various oral manifestations of neurofibromatosis in dentulous patients have been documented in literature. Although most of the previous documents have discussed on common findings like a prominent lingual papillae, or solitary overgrowth of gingival soft tissue, this article focuses on a relatively rare occurrence of multiple nodular manifestations of Neurofibromatosis-1 on an edentulous alveolar ridge, tongue, palate and lips of an elderly female patient.

Decayed, missing, and restored teeth in patients with Neurofibromatosis Type 1

“…A large body of literature exists with descriptive reports of dental anomalies and mandibular deformities. These findings can be attributed to the variable form of FPNF-associated bone deformations in the vast majority of cases ( 18 , 19 , 22 , 23 ). With reference to dental findings, these reports detail the numerous retentions of teeth but do not address the potential impact of the disease on formation of teeth and dental health.…”

“…The retention of teeth, complex tooth deficiencies, and unusual jaw deformities are included in the spectrum of oral manifestations of this entity ( 18 - 22 ). Difficulties in oral surgical procedures and in the maintenance of teeth in patients with NF1 have been reported ( 23 - 26 ). Recently, reports have been published that show either a significantly poorer or better preservation of dental health in patients with NF1 compared to the respective reference population ( 27 , 28 ).…”

Solitary neurofibroma of the floor of the mouth: rare localization at lingual nerve with intraoral excision

“…The most common clinical expression is a hypertrophied tongue and fungiform papillae enlargement, particularly in neurofibromatosis type 1 (NF1). However, syndromic manifestations are often associated with other clinical symptoms, such as a large number of both cutaneous and subcutaneous neurofibromas, including more than 10 flat, brown-pigmented café-au-lait spots on the trunk and upper arms [33, 34].…”