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Solitary Neurofibromatosis in the Maxilla: Report of Oral Findings
C LIN IC A L
REPO RTS
Solitary neurofibromatosis in the maxilla: report of oral findings G ary R. Badger, DDS, MS
Clinical and histological manifestations of von Recklinghausen disease are reviewed. The oral findings in a patient with a solitary maxillary plexiform neurofibroma are described.
N
eurofibromatosis was first de scribed by von Recklinghausen in 1882. He characterized the disease as a disorder of neural crest origin re sulting in multiple soft tissue over growths and cafe-au-lait pigmenta tion. Histologically, the lesions are composed of hamartomatous mix tures of nerve fibers, Schwann cells (lem m ocytes), and fib ro b la sts.1 However, some controversy exists as to whether the affected mesenchymal elements arise independently. The genetic transmission is mendelian dominant with a frequency of 1:2,500 to 3,300, although spontaneous mu tations are known to occur. Physical manifestations of the dis ease are often present at birth and becom e more evident with age. Fienman and Yakovac2 reported that 43% of the children studied at Chil dren’s Hospital of Philadelphia had physical signs at birth, and 63% had signs by 1 year of age. Cutaneous le sions appear on the trunk, the face, and the extremities and seem to have no predilection for race or sex. In traoral manifestations occur rarely and most often appear in the mandi ble as solitary lesions.3 Preston and others4 described four patients, two with palpable neurofibromas be neath the buccal mucosa, one with a
undergo malignant change. How ever, those patients with six cafe-aulait spots exceeding 1.5 cm at the broadest diameter should be advised to have frequent examinations and immediate treatment of the neurofibromatous nodules if deep-seated growth is suspected.2 The treatment for these patients is generally conservative; solitary le sions may be excised, and they sel dom recur.8
lesion of the hard palate, and one with a tumor palpable in the tongue. Freedus and Doyle5 reported a case involving the maxilla as well as the mandible in a 21-year-old patient. Both the second and third molars in the maxilla were impacted in the pro liferating bone. Griffith and others6 e x a m in e d 50 p a t ie n t s w ith neurofibromatosis, and only two had lesions in the maxilla. The most serious complication of this disease is sarcoma. Hosoi7 re ports a 13% incidence, whereas Pres ton and others4 suggest 16%. Abell and others1 say there is little ten dency for solitary neurofibromas to
R ep o rt of case A 7V2-year-old girl came to the clinic for a routine exam ination. Medical history
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Fig 1 ■ Genetic history of patient with plexiform neurofibroma. JADA, Vol. 100, February 1980 ■ 213
C LIN IC A L
REPORTS
Fig 3 ■ Interdental spacing on right side of maxilla. Fig 2 ■ Drooped facial appearance and swelling on right side of face.
Fig 4 ■ Canine crossbite is evident in frontal (left) and right side (middle) views; occlusion is normal on left side (right).
Fig 5 ■ Radiographic examination showing increased amount of radiolucency in region of right sinus and zygoma.
disclosed that, at 21 months of age, the mother noticed an enlargement of the right side of the face. Physical examina tion and an excisional biopsy examina tion at age 2 years by a physician con firmed a plexiform neurofibroma. Family history (Fig 1) showed that a male and a female sibling have the dis ease, whereas another male sibling does not. The patient’s mother has the disease and has the cutaneous nodules and the cafe-au-lait spots. An aunt and uncle also have the disease, whereas another aunt and uncle do not. The patient’s grand mother and two male cousins had the dis ease. Physical examination disclosed multi ple cafe-au-lait spots occurring on the 214 ■ JADA, Vol. 100, February 1980
trunk and the extremities. No cutaneous nodules were present. The right cheek appeared swollen from the lower eyelid to the commissure, and the right side of the face drooped significantly (Fig 2). The nose deviated to the left. The lip on the affected side had considerable hair. The appearance of the left side of the face was normal. Oral exam ination showed' that the mandible was normal. The maxilla was enlarged on the affected side and had interdental spacing (Fig 3). The unaf fected side of the m axilla appeared normal. The patient had single-tooth crossbite between the m axillary and mandibular right primary canines (Fig 4). The left side had normal occlusion. The patient was cariesfree, and oral hygiene was good, although slight gingivitis existed around the teeth on the affected side. All perm anent first m olars had erupted except the one in the affected side of the maxilla, which seemed to be devel oping normally. The second and third molars on the affected side were also de veloping normally. Radiographically, generalized spacing in the right side of the maxilla was evi dent. The left side of the maxilla was de veloping normally. All permanent teeth were developing normally, although the molars on the affected side were delayed in the eruption pattern. Radiographs of the skull indicated an increased amount of radiolucency in the region of the right sinus and the zygoma (Fig 5). Radiographs of the patient have been taken periodically, and removal of the neurofibroma with cosmetic repair when the patient is approximately 12 years of age has been recommended.
Su m m ary A solitary plexiform neurofibroma in the maxilla of a 7V2-year-old girl is described. The patient had an en larged maxilla, interdental spacing, crossbite, and a drooping facial ap pearance. She had cafe-au-lait pig mentation and a positive familial his tory, but she had no cutaneous le sions. Dr. Badger is chief, department of pedodontics, US Army Dental Corps, Fort Knox, Ky. Address requests for reprints to the author, 138 Boone Trace, Radcliff, Ky 40160. 1. Abell, M.R.; Hart, W.R.; and Olsen, J.R. Tumors of the peripheral nervous system. Hum Pathol 1(4):503, 1970. 2. F ienm an, N .L., and Yakovac, W.C. Neurofibromatosis in childhood. J Pediatr 76(3):339, 1970. 3. Prescott, G.H., and White, R.E. Solitary, central neurofibroma of the mandible: report of case and review of the literature. ] Oral Surg 28:305-309, 1970. 4. Preston, F.W.; Walsh, W.S.; and Clarke, T.H . C utaneous neurofibrom atosis (von Recklinghausen’s disease). Arch Surg 64:813827,1952. 5. Freedus, M.S., and Doyle, P.K. Multiple neurofibromatosis with oral manifestations. J Oral Surg 33(5):360-363, 1975. 6. Griffith, B.H., and others. Von Reckling hausen’s disease in children. Plast Reconstr Surg 49:647-653, 1972. 7. Hosoi, K. Multiple neurofibromatosis (von Recklinghausen’s disease). Arch Surg 22:258281,1931. 8. Shafer, W.G.; Hine, M.K.; and Levy, B. A textbook of oral pathology, ed. 3. Philadelphia, W. B. Saunders Co., 1974, p 194.
REPO RTS
Solitary neurofibromatosis in the maxilla: report of oral findings G ary R. Badger, DDS, MS
Clinical and histological manifestations of von Recklinghausen disease are reviewed. The oral findings in a patient with a solitary maxillary plexiform neurofibroma are described.
N
eurofibromatosis was first de scribed by von Recklinghausen in 1882. He characterized the disease as a disorder of neural crest origin re sulting in multiple soft tissue over growths and cafe-au-lait pigmenta tion. Histologically, the lesions are composed of hamartomatous mix tures of nerve fibers, Schwann cells (lem m ocytes), and fib ro b la sts.1 However, some controversy exists as to whether the affected mesenchymal elements arise independently. The genetic transmission is mendelian dominant with a frequency of 1:2,500 to 3,300, although spontaneous mu tations are known to occur. Physical manifestations of the dis ease are often present at birth and becom e more evident with age. Fienman and Yakovac2 reported that 43% of the children studied at Chil dren’s Hospital of Philadelphia had physical signs at birth, and 63% had signs by 1 year of age. Cutaneous le sions appear on the trunk, the face, and the extremities and seem to have no predilection for race or sex. In traoral manifestations occur rarely and most often appear in the mandi ble as solitary lesions.3 Preston and others4 described four patients, two with palpable neurofibromas be neath the buccal mucosa, one with a
undergo malignant change. How ever, those patients with six cafe-aulait spots exceeding 1.5 cm at the broadest diameter should be advised to have frequent examinations and immediate treatment of the neurofibromatous nodules if deep-seated growth is suspected.2 The treatment for these patients is generally conservative; solitary le sions may be excised, and they sel dom recur.8
lesion of the hard palate, and one with a tumor palpable in the tongue. Freedus and Doyle5 reported a case involving the maxilla as well as the mandible in a 21-year-old patient. Both the second and third molars in the maxilla were impacted in the pro liferating bone. Griffith and others6 e x a m in e d 50 p a t ie n t s w ith neurofibromatosis, and only two had lesions in the maxilla. The most serious complication of this disease is sarcoma. Hosoi7 re ports a 13% incidence, whereas Pres ton and others4 suggest 16%. Abell and others1 say there is little ten dency for solitary neurofibromas to
R ep o rt of case A 7V2-year-old girl came to the clinic for a routine exam ination. Medical history
î I \ y
T
?
Ï
T
I
I
Î
T
Î
?
Fig 1 ■ Genetic history of patient with plexiform neurofibroma. JADA, Vol. 100, February 1980 ■ 213
C LIN IC A L
REPORTS
Fig 3 ■ Interdental spacing on right side of maxilla. Fig 2 ■ Drooped facial appearance and swelling on right side of face.
Fig 4 ■ Canine crossbite is evident in frontal (left) and right side (middle) views; occlusion is normal on left side (right).
Fig 5 ■ Radiographic examination showing increased amount of radiolucency in region of right sinus and zygoma.
disclosed that, at 21 months of age, the mother noticed an enlargement of the right side of the face. Physical examina tion and an excisional biopsy examina tion at age 2 years by a physician con firmed a plexiform neurofibroma. Family history (Fig 1) showed that a male and a female sibling have the dis ease, whereas another male sibling does not. The patient’s mother has the disease and has the cutaneous nodules and the cafe-au-lait spots. An aunt and uncle also have the disease, whereas another aunt and uncle do not. The patient’s grand mother and two male cousins had the dis ease. Physical examination disclosed multi ple cafe-au-lait spots occurring on the 214 ■ JADA, Vol. 100, February 1980
trunk and the extremities. No cutaneous nodules were present. The right cheek appeared swollen from the lower eyelid to the commissure, and the right side of the face drooped significantly (Fig 2). The nose deviated to the left. The lip on the affected side had considerable hair. The appearance of the left side of the face was normal. Oral exam ination showed' that the mandible was normal. The maxilla was enlarged on the affected side and had interdental spacing (Fig 3). The unaf fected side of the m axilla appeared normal. The patient had single-tooth crossbite between the m axillary and mandibular right primary canines (Fig 4). The left side had normal occlusion. The patient was cariesfree, and oral hygiene was good, although slight gingivitis existed around the teeth on the affected side. All perm anent first m olars had erupted except the one in the affected side of the maxilla, which seemed to be devel oping normally. The second and third molars on the affected side were also de veloping normally. Radiographically, generalized spacing in the right side of the maxilla was evi dent. The left side of the maxilla was de veloping normally. All permanent teeth were developing normally, although the molars on the affected side were delayed in the eruption pattern. Radiographs of the skull indicated an increased amount of radiolucency in the region of the right sinus and the zygoma (Fig 5). Radiographs of the patient have been taken periodically, and removal of the neurofibroma with cosmetic repair when the patient is approximately 12 years of age has been recommended.
Su m m ary A solitary plexiform neurofibroma in the maxilla of a 7V2-year-old girl is described. The patient had an en larged maxilla, interdental spacing, crossbite, and a drooping facial ap pearance. She had cafe-au-lait pig mentation and a positive familial his tory, but she had no cutaneous le sions. Dr. Badger is chief, department of pedodontics, US Army Dental Corps, Fort Knox, Ky. Address requests for reprints to the author, 138 Boone Trace, Radcliff, Ky 40160. 1. Abell, M.R.; Hart, W.R.; and Olsen, J.R. Tumors of the peripheral nervous system. Hum Pathol 1(4):503, 1970. 2. F ienm an, N .L., and Yakovac, W.C. Neurofibromatosis in childhood. J Pediatr 76(3):339, 1970. 3. Prescott, G.H., and White, R.E. Solitary, central neurofibroma of the mandible: report of case and review of the literature. ] Oral Surg 28:305-309, 1970. 4. Preston, F.W.; Walsh, W.S.; and Clarke, T.H . C utaneous neurofibrom atosis (von Recklinghausen’s disease). Arch Surg 64:813827,1952. 5. Freedus, M.S., and Doyle, P.K. Multiple neurofibromatosis with oral manifestations. J Oral Surg 33(5):360-363, 1975. 6. Griffith, B.H., and others. Von Reckling hausen’s disease in children. Plast Reconstr Surg 49:647-653, 1972. 7. Hosoi, K. Multiple neurofibromatosis (von Recklinghausen’s disease). Arch Surg 22:258281,1931. 8. Shafer, W.G.; Hine, M.K.; and Levy, B. A textbook of oral pathology, ed. 3. Philadelphia, W. B. Saunders Co., 1974, p 194.