Neurofibroma is a benign peripheral nerve sheath tumor. It is one of the most frequent tumors of neural origin and 
its presence is one of the clinical criteria for the diagnosis of neurofibromatosis type I (NF-I). Neurofibromatosis 
type I is an autosomal dominantly inherited disease due to an alteration in the long arm of chromosome 17. About 
50% of NF-I patients have no family history of the disease. NF-I patients have skin lesions (café au lait spots and 
neurofibromas) as well as bone malformations and central nervous system tumors. Diagnosis is based on a series of 
clinical criteria. NF-I presents with certain definite oral manifestations which confers to the dentists a major responsibility for accurate diagnosis and report of the disease. The paper aims to highlight the role of an oral diagnostician 
in first recognition of  NF-I in a family via manifestations in the oral cavit

Khan, Mubeen

Ohri, Neera

Journal of Clinical and Experimental Dentistry

M. Khan

N. Ohri

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Oral manifestations of Type I Neurofibromatosis in a family

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e483J Clin Exp Dent. 2011;3(5):e483-6.                                                      Neurofibromatosis Type I - oral manifestations.Journal section: Oral Medicine and Pathology                                      doi:10.4317/jced.3.e483Publication Types: Case ReportOral manifestations of Type I  Neurofibromatosis in a family  Mubeen Khan1, Neera Ohri 21 MDS. Professor and Head. Department of  Oral Medicine and Radiology. Government Dental College and Research Institute. Fort, Bangalore, Karnataka, India.           2 BDS (MDS). Post Graduate Student. Department of  Oral Medicine and Radiology. Government Dental College and Research Institute. Fort, Bangalore, Karnataka, India.Correspondence:  Department of Oral Medicine and RadiologyGovernment Dental College and Research InstituteFort, Bangalore-560002Karnataka, India.E-mail: neeraohri@gmail.comReceived: 26/03/2011Accepted: 15/10/2011Abstract Neurofibroma is a benign peripheral nerve sheath tumor. It is one of the most frequent tumors of neural origin and its presence is one of the clinical criteria for the diagnosis of neurofibromatosis type I (NF-I). Neurofibromatosis type I is an autosomal dominantly inherited disease due to an alteration in the long arm of chromosome 17. About 50% of NF-I patients have no family history of the disease. NF-I patients have skin lesions (café au lait spots and neurofibromas) as well as bone malformations and central nervous system tumors. Diagnosis is based on a series of clinical criteria. NF-I presents with certain definite oral manifestations which confers to the dentists a major respon-sibility for accurate diagnosis and report of the disease. The paper aims to highlight the role of an oral diagnostician in first recognition of  NF-I in a family via manifestations in the oral cavity.Key words: neurofibromatosis type I, oral manifestations.Khan M, Ohri N. Oral manifestations of Type I Neurofibromatosis in a family. J Clin Exp Dent. 2011;3(5):e483-6http://www.medicinaoral.com/odo/volumenes/v3i5/jcedv3i5p483.pdfArticle Number: 50541              http://www.medicinaoral.com/odo/indice.htm© Medicina Oral S. L. C.I.F. B 96689336 - eISSN: 1989-5488eMail:  jced@jced.ese484J Clin Exp Dent. 2011;3(5):e483-6.                                                      Neurofibromatosis Type I - oral manifestations.IntroductionNeurofibroma, a benign peripheral nerve sheath tumor arises from Schwann cells and peri neural fibroblasts. Two clinical forms of neurofibromatosis have been des-cribed: peripheral- type I; and central- type II (1). Neuro-fibromatosis type I, also known as von Recklinghausen’s disease, is a common neurocristopathy, with an estima-ted incidence of 1 in 3,000 live births. It is characterized by autosomal dominant inheritance with complete pe-netrance but variable expression. The tumor suppressor NF1gene has been identified on chromosome17q11.2 (2). The frequency of oral manifestations is debated in the literature. Some authors report a frequency of 4-7% of cases (3), whereas others suggest that these manifesta-tions are present in up to 72% of cases (4).The present paper focuses on oral manifestations of Neurofibroma-tosis type I in a family and the role of oral diagnostician in accurate and early diagnosis which is central to timely treatment and ultimate well being of the patient.Clinical Case Case1: A 20-year-old female patient reported to Depart-ment of Oral medicine and radiology, Government Den-tal College and Research Institute, with a complain of pain in left maxillary tooth  and swelling in left angle of mandible since one month. The physical examination disclosed multiple skin nodules distributed throughout the body, extensively involving the face and neck and were present since childhood. The diffuse brownish pig-mentation was present on the back and neck. The fam-ily history revealed that mother, sister and brother had similar nodules on body. The extra-oral examination re-vealed flat nose, frontal bossing with palpable,tender and mobile bilateral submandibular lymph nodes. The ophthalomogical examination revealed presence of lisch nodules with everted eyelids.  A localized swelling measuring about 2 x1.5 cm in dimensions with erythma-tous surface and  soft consistency was present on left angle of mandible. There was present diffuse brownish pigmentation of oral mucosa including tongue. Intra-orally a swelling was noted lingually in relation to lower anterior teeth extending from attached gingival to floor of mouth (fig. 1.). The swelling was of normal mucosal color, almost 2.5 cm in diameter, non ulcerated, non ten-der, soft in consistency and had a sessile base. Recession with grade II mobility was present in relation to 31. All the lower anterior teeth were vital and aspiration was negative. No odontogenic cause was found for extra-oral swelling and intraoral swelling. The patient was referred for dermatological opinion and extra oral swelling was Fig. 1.  intra-oral swelling present lingually in relation to lower anteriors.Fig. 2. Orthopantomograph showing widening of mandibular canals, mental foramen, deeepnening  of sigmoid notch and shortening of ramus e485J Clin Exp Dent. 2011;3(5):e483-6.                                                      Neurofibromatosis Type I - oral manifestations.found to be secondarily infected neurofibroma and was put on analgesics and antibiotics.  Hence the clinical diagnosis of Neurofibrotosis type I was given based on clinical criteria.The orthopantomograph revealed diffuse radiolucency in periapical region in relation to 42, 31 and 32. There was  widening of mandibular canals, enlarged mental foramen, deeepnening  of sigmoid notch and shortening of ramus suggestive of neurofibromatosis. The enostosis in relation to missing 36 was also noted (fig. 2.). Hence the excisional biopsy of the intra-oral swelling was done. The histological picture was suggestive of neuro-fibroma. The H&E stained sections revealed numerous elongated cells with wavy dark staining nuclei. The cells were seen associated with delicate strands of collagen fibers. Few cells are arranged in whorls and fascicles. Small amount of mucoid-like material was seen at areas. Few small neurites were also evident. Sections stained with toludine blue revealed mast cells.Case 2: The elder sister of case I, aged 23 years had si-milar lesions on the body along with café-au-lait spots suggestive of type I neurofibromatosis. Intra-orally a nodular  lesion with sessile base measuring about 1 cm in diameter along with deep fissures and brownish pig-mentation was present on anterior dorsum of the tongue (fig. 3.). On palpation lesion was soft in consistency and non tender. No significant radiographic manifestations were found. The patient was counseled for  excisional biopsy.Case 3: The elder brother of case I, aged 29 years had multiple sessile and pedunclated lesions all over the body, with café- au- lait spots suggestive of type I neu-rofibromatosis. The patient had flat bridge of nose. Intra-orally dorsum of tongue showed enlargement of fungi-form papilla with patchy areas of depapillation and deep fissuring. No prominent radiographic manifestations were present.DiscussionNF I is a multisystem harmartomatous disorder with protean expression of cutaneous, neurologic, skeletal, visceral, and ocular manifestations (2).Despite the ad-vances of molecular biology, the diagnoses of NF I and NF II are still based on clinical criteria. The National In-stitutes of Health Consensus Development Conference has suggested clinical criteria diagnostic of NF I and NF II (5). Diagnosis of Neurofibromatosis Type I (NF I):Six or more café au lait macules over 5 mm in great-1. est diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals Two or more neurofibromas of any type or one 2. plexiform neurofibroma Freckling in the axillary or inguinal regions 3. (Crowe´s sign) Optic glioma 4. Two or more Lisch nodules (iris harmartomas) 5. A distinctive osseous lesion such as sphenoid dys-6. plasia or thinning of long bone cortex with or with-out pseudoarthrosis A first-degree relative (parent, sibling, or offspring) 7. with NF I by the above criteria The criteria are met in an individual if two or more of the features listed are present. Diagnosis of Neurofibromatosis Type II (NF II):Bilateral masses of the eighth cranial nerve seen 1. with appropriate imaging techniques (e.g., CT or MRI) One relative in first-degree with NF II and either: 2. a)       Unilateral mass of the eighth cranial nerve, or b)       Two of the following: Neurofibroma • Meningioma • Glioma • Schwannoma • Juvenile posterior subcapsular lenticular opac-• ity The criteria are met by an individual who satisfies con-dition 1 or 2. Neurofibromas are the hallmark of the NF I and usually appear during childhood or adolescence after the emer-gence of cafe´ au lait spots. Our all the three cases had neurofibromas of the skin and  cafe´ au lait spots. Accor-ding to Shapiro et al lesions in the oral soft tissues have been noted, with a reported prevalence up to 72% (4). The considerable difference of oral manifestations can be attributed to the heterogeneity of patients examined Fig. 3.  a nodular  lesion with sessile base  present on tongue along with deep fissuring and brownish pigmentation e486J Clin Exp Dent. 2011;3(5):e483-6.                                                      Neurofibromatosis Type I - oral manifestations.in specialized hospitals, and the differences in symptoms investigated and the methods of investigation applied. The neurofibromas in oral cavity most commonly in-volves the tongue. Other affected sites include lips, pa-late, buccal mucosa, gingiva, floor of the mouth or the pharynx (3). Neurofibromas of the tongue are nearly always nodular  which was present in our case. Macro-glossia and enlargement of filliform papillae may also be noted. One of our case showed additional finding of de-papillation and deep fissuring of tongue. Oral localized neurofibromata present as discrete nodules of normal color and they are usually asymptomatic as was present in our case. Nevertheless, neurofibromata on or adjacent to the cranial nerves also affect motor function of the fa-cial and hypoglossal nerves and sensory function of the trigeminal nerve. In our case, a localized neurofibroma was found in the gingiva, which is an uncommon loca-lization. Shapiro et al. observed gingival neurofibromas in only 5% of all patients with NF I(4).Gingival lesions can be confused with periodontal disease  or cause pe-riodontal disease, because tissue growth impedes access to dental surfaces and is an obstacle to proper oral hy-giene.Oral radiographic findings unique to NF  include  leng-thening, narrowing and rarefaction of coronoid and arti-cular process, deepening of sigmoid notch, an enlarged mandibular canal, mandibular foramen and mental fo-ramen. Other findings are Shortening of the ramus, not-ching of the inferior border of the mandible and even asymmetrically formed  maxillary sinus (6).Osseous al-terations can be the result of soft tissue tumor growing against or within bone, resulting in hypoplasia or resorp-tion (3). The osseous changes in case I can be attributed to the soft tissue tumor growing against the bone.A change in size of a pre-existing mass, compression, or infiltration of the adjacent structures indicate malignant degeneration(7).Thus, histological and clinical evalua-tion should be performed in order to choose the most appropriate treatment strategy for these patients. The partial or total surgical removal of tumors can be per-formed to solve aesthetic and functional problems, but it is preferable to wait for the end of growth to reduce the risk of re-occurrence. There is no indication to date that surgery favors malignant degeneration. ConclusionOccasionally, oral manifestations and oral tissue speci-mens may provide the opportunity to diagnose NF. The oral manifestations of NF are well-documented but may not be at the forefront of the clinician’s mind in the di-fferential diagnosis of intra-oral swelling. A thorough examination and trained eye will provide the opportu-nity to diagnose NF. Therefore, the oral diagnostician should be made aware of the oral manifestations of the NF which will help in timely diagnosis and treatment of this disorder.ReferencesCunha KSG, Barboza EP, Dias EP and Oliveira FM. Neurofibro-1. matosis type I with periodontal manifestation. A case report and literature review. Br Dent J. 2004;198:457-460.Honavar SG, Singh AD, Shields CL, Shields JA and Eagle RC. Iris 2. Melanoma in a patient with neurofibromatosis. Surv Ophthalmol. 2000; 45:231-236.Geist JR, Gander DL, Stefanac SJ. Oral manifestations of neurofi-3. bromatosis types I and II. Oral Surg Oral Med Oral Pathol. 1992; 73:376-382.Shapiro SD, Abramovitch K, Van Dis ML, Skoczylas LJ, Langlais 4. RP, Jorgenson RJ, et al. Neurofibromatosis: oral and radiographic manifestations. Oral Surg Oral Med Oral Pathol. 1984;58:493-498.Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz 5. RE et al. The diagnostic evaluation and multidisciplinary mana-gement of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278:51-57.Friedrich RE, Giese M, Schmelzle R, Mautner VF, Scheuer HA. 6. Jaw malformations plus displacement and numerical aberrations of teeth in neurofibromatosis type 1: a descriptive analysis of 48 pa-tients based on panoramic radiographs and oral findings.  J Cranio Maxillofac Surg. 2003;31:1–9.Vincent SD, Williams TP. Mandibular abnormalities in neurofibro-7. matosis. Oral Surg Oral Med Oral Pathol.1983;55:253-258.

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