Pannu et al: in craniofacial

Case Report Osteosclerotic dysplasia of the craniofacial bones Pannu V1, Katkar R2, Nair M3

ABSTRACT 1Dr Veerinder Pannu BDS, MS Oral and Maxillofacial Radiology Melorheostosis is a rare sclerosing bone dysplasia which is resident, [email protected] characterized by a localized, diffuse thickening of the cortical bone Department of Oral and Maxillofacial Diagnostic Sciences College of Dentistry, University of mainly affecting diaphysis of long bones, and bones of hand and feet Florida, USA 2 Dr Rujuta Katkar unilaterally. Involvement of the maxillofacial region is rare and the Clinical Assistant Professor, Department of Comprehensive Dentistry, UTHSCSA School of Dentistry diagnosis is mainly based on radiographic features. We report a rare [email protected] 3 Dr Madhu Nair case of a 5 year old girl with Osteosclerotic Bone Dysplasia DMD, MS, Lic Odont, PhD, Chairman & Professor Email:[email protected] (Melorheotosis) of multiple craniofacial bones. 1,3Oral and Maxillofacial Diagnostic Sciences Key Words: Melorheotosis, dysplasia, craniofacial, cortical bone, College of Dentistry, Oral and Maxillofacial Radiology, Dept of multiple Radiology, College of Medicine, University of Florida, USA

Received: 12-05-2015 Revised: 25-05-2015 Accepted: 08-06-2015 Correspondence to: Dr Veerinder Pannu +1 706.399.9973 Fax: +1 353.273.6553

Introduction adjacent soft tissues leads to deformities In 1922, Leri and Joanny described a rare which limit movement.[2] The radiographic nonhereditary sclerosing bone dysplasia of appearance of this disorder is described as unknown etiology, [1-6] characterized by a similar to “dripping wax” or “flowing candle localized, diffuse thickening of cortical wax”. Hence it was named Melorheostosis, bone, mainly the long bones of the upper which is derived from the Greek words for and lower extremities, and those of the limb (melos) and flow (rhein). [1-5] hands and feet. [2-6] The condition, also Melorheostosis has been referred to as Leri known as Leri disease, may affect one or syndrome, osteosis eburnisans (monsototic), many bones in one extremity monomelica, [7] and (monomelic), or multiple bones rhizomonomelorheostosis. [3,8] The (polyostotic). [3,5,6] Involvement of bone and incidence of this dysplasia has been

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Pannu et al: Melorheostosis in craniofacial bones reported to be 0.9 cases per million. disease was known. A medical CT had been [2,3,5,9,10] It does not show a gender or age done at the age of 1 month and eventually predilection and in 40-50% of cases, it is been diagnosed as Melorheostosis. evident usually by the age of 20 years. [2,5,10] A non-contrast thin slice cone beam Melorheostosis has been associated volumetric computed tomography scan of with abnormalities of mesodermal origin the head and neck was obtained extending like glomus tumors, vascular nevi, from the level of frontal bone to C3-C4 to hemangiomas, arteriovenous evaluate the extent of structural changes. malformations, lymphangiectasis, Cone beam CT (CBCT) reconstructions lymphangiomas, neurofibromatosis, demonstrated multiple high hypophosphatemic rickets, linear density/sclerotic foci of compact bone in scleroderma etc. [2,3] Histologically, the the midline and extending into the left side sclerotic bone consists of dense but regular of the sphenoid, frontal, and ethmoid bone tissue. Clinically, it may present with bones, anterior maxilla, and anterior and/or or soft tissue swelling.[3] mandible along with enlargement of these Although approximately 400 cases bones. (Figure 1, Figure 4). of melorheostosis have been reported in the literature, its occurrence in the maxillofacial region is extremely rare. Less than 10 cases of melorheostosis in maxillofacial region have been reported in the English literature.[3,5] There have been no known cases of sensory or motor function impairment in these reported cases.[3] Majority of the cases reported are symptomless. The most common symptom reported is varying severity of pain and occasional paresthesia, but no loss of sensory or motor function. Other symptoms reported include gradual bone expansion, Fig.1 Multiple high attenuation masses noted in the stiffness of , focal pigmentation on the sphenoid bone, frontal bone, ethmoid bone, skin, localized hypertrichosis, thickening of anterior maxilla, and anterior mandible the skin, and scleroderma. [2,5] This case was the first such reported case in our department and showed involvement of multiple maxillofacial bony structures.

Case Report A 5 year-old female patient presented with a history of glabellar soft tissue fullness and nasal bone abnormality. The expansion was asymptomatic. No lymphadenopathy was Fig.2 Sclerotic bone superior to developing noted. No significant family history of the mandibular teeth

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Pannu et al: Melorheostosis in craniofacial bones

teeth. (Fig.2) A malformed supernumerary tooth was noted in the anterior maxilla, apical and palatal to the developing #9. (Fig.3) The sphenoid sinus and the left maxillary sinus appeared to be inadequately pneumatized. (Fig.5) Mucosal thickening was noted in the bilateral maxillary sinuses, ethmoid air cells, and sphenoid sinus with apparent blockage of the right ostiomeatal unit. No of the adjoining soft tissue or skin abnormality was reported. Fig.3 Sclerotic and expansile bone in maxillary and Periodic evaluation was mandibular anterior region recommended to assess the progress of the

condition. Surgical correction will be delayed until maximal growth has been achieved, unless patient becomes symptomatic.

Discussion The etiology of melorheostosis is not clear. [1-6,11,12] It is known to develop slowly and without symptoms during childhood.[3] Fig. 4 An extensive dense radiopaque mass in the left anterior mandible with enlargement and Various theories have been proposed which thickening of the cortical bone include vascular disturbances, inflammatory and degenerative processes, defects in embryogenesis, and abnormalities in innervation. [3,4,10] The incidence of associated vascular anomalies is about 5%. [5] Melorheostosis is a rare sclerosing bone dysplasia which is characterized by a localized, diffuse thickening of the cortical bone. This is a non-genetic developmental anomaly of mesodermal origin with an early childhood onset, predominantly affecting the appendicular skeleton. It is most Fig. 5 Sclerotic mass in the sphenoid, common in the diaphysis of long bones, and ethmoid and maxillary sinuses bones of hand and feet unilaterally. [3,5,6,10,13] Exclusive craniofacial skeleton Transitional dentition was noted with involvement by melorheostosis is very rare. multiple primary teeth and unerupted Literature search was conducted using permanent teeth. The bone in the region of PubMed, Query, Web of Science, and teeth #s 21-25 and 9-10 was very sclerotic CINAHL databases using the following with evidence of expansion leading to a terms: melorheostosis, jaw, mandible, possible delay or failure of eruption of these maxilla, craniofacial, and dripping candle

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Pannu et al: Melorheostosis in craniofacial bones wax. It was found that although over 400 These cases involved the cranio-facial cases have been reported, cases involving region. [10] (“Current case” in the table, is the cranio-facial region are very few. the 9th case reported by Anderson et al.) Anderson et al. compiled a list of 8 Our case makes it the 10th such case. published reports in the English–language (Table 1) literature in November 2013 in Table I.

Per above table10, most cases were noted in show normal levels of serum calcium, females as a swelling in the maxilla or phosphorous, and alkaline phosphatase.[5,10] mandible with no associated pain or Various clinical features appear prior to any displacement of teeth.[10] Our patient is also radiologic signs and symptoms. Radiologic a female and presents with non- signs are the primary basis of diagnosis of symptomatic involvement of multiple facial this condition. Radiographic features of bones. melorheostosis involving the maxillofacial Freyschmidt in 2001[12], described four region show high attenuation, irregular foci distinct types and one combination type of of abnormal sclerotic bone involving the melorheostosis based on radiological facial bones in a sequential manner along appearance. Type A is characterized by an with overlying soft tissue prominence of the osteoma-like appearance. Type B affected bones.[3,5,6,10,11] This condition in represents the classic “flowing” the jaws can closely resemble other bone . Type C shows a myositis tumors like osteoma and parosteal ossificans-like pattern. Type D osteosarcoma.[10,14] Histopathology is demonstrates features similar to nonspecific and offers no definitive osteopathia striata. Type E is a mixture of diagnosis. Computed tomography is not patterns. According to this classification, regularly conducted for diagnosis, but can involvement of the craniofacial regions help in localizing the lesions. Magnetic would fall under Type E, the mixed resonance imaging (MRI) is not necessary in pattern.[10,12,13] The case we report falls most such cases.[5,10] However, affected under Type E due to involvement of bones show a decreased signal intensity on multiple bones in the craniofacial region. MRI, and a moderate and asymmetric Melorheostosis is not associated with any uptake is noted in a radionuclide bone specific biomarkers and laboratory findings scan.[13]

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Pannu et al: Melorheostosis in craniofacial bones

Primary goal of treatment is symptomatic monostotic and occurs in the mandible with relief and depends on the effect of the bony the typical radiopaque-radiolucent ground growth on the surrounding structures; glass or orange peel appearance.[3-5] including cosmetic deformity.[4] Non- Parosteal osteosarcoma has to grow steroidal anti-inflammatory analgesics can circumferentially to the bone’s surface, be administered for bone pain. Surgical presents with a dense osteoid matrix and a intervention is advised to be delayed until cleavage plane separates the lesion from skeletal maturity is reached. Physical the cortex.[15] Caffey disease or infantile therapy in cases of appendicular cortical hyperostosis is a self-limiting involvement is also helpful in conjunction disorder which can involve the mandible with analgesic relief.[2,3,5,10] Parents of the and presents as lamellated periosteal patient were advised to continue regular reaction with soft tissue swelling.[16] follow up and report any changes, In the current case, the patient was not especially if any symptoms develop. symptomatic. She had a bony hard swelling, Prognosis of this condition depends on the gradually increasing in size. There was no anatomical location, extension into soft reported history of associated discomfort or tissues, and soft tissue changes. It does not obvious motor and sensory nerve deficits. shorten life span. The disease exhibits a slow, chronic course, with periods of Conclusion exacerbation and arrest. Malignant Melorheostosis is a rare bone disorder transformation is rare.[10] When alveolar which is very uncommon in the craniofacial processes of the mandible and maxilla are region. We report a case of craniofacial involved, eruption of teeth and orthodontic melorheostosis involving maxilla, mandible, movement could pose clinical challenges. sphenoid, ethmoid and frontal bones which The differential diagnosis for increased was first diagnosed in our patient at the age conditions which may of 1 month showing probability of simulate osteoslerotic bone dysplasia as congenital presentation. The follow up visit presented in this young patient include at the age of 5 years confirmed the sclerosing , fluorosis, fibrous diagnosis. Regular follow up and clinical dysplasia, parosteal osteosarcoma and monitoring for disturbances in the eruption Caffey disease. Sclerosing osteomyelitis of teeth was recommended. Challenges in may affect any age, sex or race and it tends orthodontic tooth movement maybe to occur more often in middle aged African- anticipated due to dense sclerotic bone in American females. Typically, it manifests as the alveolar processes. acute exacerbations of pain and swelling, and the cortical bone may show significant References expansion. Radiographically, the lesion is 1. Leri A, Joanny J. Une affection non decrite poorly defined with early radiolucent zones des os. Hyperostose “en coulee” sur toute in association with sclerotic masses. la longeur d’ub member ou Osteomas present with a smooth well “meloheostose”. Bull Mem Soc Med Hop defined margin.[5] causes Paris 1922;46:1141-1145. an increase in the volume of the cancellous 2. Mariaud-Schmidt RP, Bitar WE, Perez- bone with irregular deposits of osteoid Lamero F, Barros-Nunez P. Melorheostosis: tissue. Fibrous dysplasia is usually

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unusual presentation in a girl. Clin Imaging 11. Brown R, Steiner GC, Lehman W. 2003;26:58-62. Melorheostosis: case report with radiologic- 3. Kuttenberger JJ, Hardt N, Gebbers JO, Hofer pathologic correlation. Skeletal Radiol B. Osteosclerotic bone dysplasia 2000;29:548-552. (melorheostosis) of the mandible. Int J Oral 12. Freyschmidt J. Melorheostosis: a review of Maxillofac Surg 2006;35:1164-1167. 23 cases. Eur Radiol 2001;11:474-9. 4. Ethunandan M, Khosla N, Tilley E, Webb A. 13. Bansal, A. The dripping candle wax sign. Melorheostosis involving the craniofacial Radiology. 2008; 246:638-640. skeleton. J Craniofac Surg 2004;15:1062- 14. Motimaya AM, Meyers SP. Melorheostosis 1065. involving the cervical and upper thoracic 5. Parashar P, Musella A, Novak T, Greer RO. spine: radiographic, CT and MR imaging Melorheostosis: report of two cases findings. American journal of affecting the jaw. Oral Surg Oral Med Oral neuroradiology 2006;27(6): 1198-1200. Pathol Oral Endod 2007;104:e66-e70. 15. Jelinek JS, Murphey MD, Kransdorf MJ, 6. Ghai S, Sharma R, Ghai S. Mixed sclerosing Schmookler BM, Malawer MM, Hur RC, et bone dysplasia-a case report with literature al. Parosteal osteosarcoma: value of MR review. Clin Imaging 2003;27:203-205. imaging and CT in the prediction of 7. Putti V. A new osteoplastic syndrome. histologic grade. Radiology 1996;201:837- Eburneous monomelic osteosis (in Italian). 842. Chir Organo Mov 1927;11:335. 16. Kutty N, Thomas D, George L, John TB. 8. Wiedman BP, Stecher WR. Rhizomono- Caffey disease or infantile cortical melorheostosis. Radiology 1935;24:651- hyperostosis: a case report. Oman Med J 654. 2010;25(2):134-136. 9. Wynne-Davies R, Gormley J. The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of Cite this article as: Pannu V, Katkar R, Nair patients requiring orthopedic care. J Bone M. Osteosclerotic bone dysplasia of the Joint Surg Br 1985;61B:133-137. craniofacial bones. Int J Med and Dent Sci 10. Anderson KM, Shintaku WH, Rosebush MS, 2015; 4(2):891-896. Rawal YB, Woodard ES. Melorheostosis and central giant cell granuloma of the mandible Source of Support: Nil in a 15-year-old girl. Oral Surg Oral Med Conflict of Interest: No Oral Pathol Oral Radiol 2013;116:e399- e404.

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