Oral Manifestations of Neurofibromatosis Type 1

Abstract

Neurofibromatosis type 1 (NF-1) is a common genetic disorder with a highly variable phenotype. The disease affects both proliferation and differentiation of cells of neurectodermal origin. The presence of tumors is very common like benign nodular neurofibromas. Tumors with unclear prognosis may be present like plexiform neurofibromas whose prognosis is more uncertain. While many organs exhibit pathologies, most commonly affected are the nervous system, skin, gastrointestinal tract and heart. Oral abnormalities are also very common: 72% of NF-1 patients exhibit pathologies in oral mucosa, gums, maxillary and temporomandibular joints, and teeth. The incidence of NF-1 and its relationship to the prevalence of caries have been discussed in other researches. It is known that poor oral hygiene plays a key role in the development of periodontal disease and caries. Here we review the oral manifestations of neurofibromatosis type 1 that we illustrate by a patient followed in the center of rare diseases of the hospital Henri Mondor, clinical service in which we work.

Vocal Tract Abnormalities in Patients with Two Genodermatoses: Lipoid Proteinosis and Neurofibromatosis Type 1

“…Mucosal and gingival pigmentations which are also considered among common clinical features in NF1 cases were detected in 3/18 of our NF1 patients. [14,25] Plexiform neurofibroma arising from the floor of the mouth giving the impression of a second tongue was detected in one NF1 patient. Plexiform neurofibroma is a very rare finding inside the oral cavity, apparently originating from the fifth cranial nerve and its branches.…”

“…Plexiform neurofibroma is a very rare finding inside the oral cavity, apparently originating from the fifth cranial nerve and its branches. [26,27,14] A close follow-up is mandatory for this oral neurofibroma to detect any symptomatic growth or malignant transformation and accordingly provide proper intervention when needed.…”

“…In cases of NF1, patients were diagnosed based on the presence of at least two of the diagnostic clinical features stated by the National Institutes of Health (NIH) (Table 1). [14] For LP patients, acneiform scaring and the hyperkeratotic verrucous lesions were described in detail.…”

“…It is characterized by marked variable expressivity, even within the same family, ranging from very mild to severe life-threatening phenotype making anticipatory guidance difficult. [13,14] LP is a rare multisystem genodermatoses with approximately 400 cases reported in the literature with no gender or ethnic preference. [15,16] LP is inherited as an autosomal recessive (AR) disorder, occurring more frequently in countries with higher rates of consanguineous marriages.…”

Unilateral gingival enlargement in a patient with neurofibromatosis type 1 - Case report

“…Clinically they appear as either discrete or localized and plexiform neurofibromas. 6 Neurofibromas, although most commonly seen on skin, but can involve many organs including stomach, intestines, kidney, bladder, larynx and heart. This patient revealed multiple plexiform lesions in the face, neck, upper and lower limbs, chest and back region.…”