The Journal of Craniofacial Surgery • Volume 25, Number 6, November 2014

Brief Clinical Studies

7. Beales PL, Warner AM, Hitman GA, et al. Bardet–Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet 1997;34:92–98 8. Lavinsky J, Goldhardt R, Ariente SK, et al. Síndrome de Bardet-Biedl: relato de dois casos. Arq Bras Oftalmol 2003;66:675–680 9. Beales PL, Elcioglu N , Woolf AS, et al. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999;36:437 10. M’hamdi O, Maazoul IOF, Chaabouni-Bouhamed H. Prevalence of Bardet–Biedl syndrome in Tunisia. Community Genet 2011;2:97–99 11. Lee BH, Liu J, Wong D, et al. Hyperactive neuroendocrine secretion causes size, feeding, and metabolic defects of C. elegans Bardet-Biedl syndrome mutants. PLoS Biol 2011;9:e1001219 12. Cassart M, Eurin D, Didier F, et al. Antenatal renal sonographic anomalies and postnatal follow-up of renal involvement in Bardet-Biedl syndrome. Ultrasound Obstet Gynecol 2004;24:51–54 13. Beales PL, Katsanis N, Lewis RA, et al. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet 2001;68:606–616 14. Halac U, Herzog D. Bardet-Biedl syndrome, Crohn disease, primary sclerosing cholangitis, and autoantibody positive thyroiditis: a case report and a review of a cohort of BBS Patients. Case Rep Med 2012;2012:209–827 15. Riise R, Andreasson S, Borgstrom M, et al. Intrafamilial variation of the phenotype in Bardet-Biedl syndrome. J Ophthalmol 1997;81:378–385 16. Waters AM, Beales PL. Bardet-Biedl syndrome. In: Pagon RA, Bird TD, Dolan CR, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle. Available at: http://www.ncbi.nlm.nih.gov/books/ NBK1363/ 17. Barnett S, Reilly S, Carr L, et al. Behavioural phenotype of Bardet-Biedl syndrome . J Med Genet 2002;39:76 18. Borgström MK, Riise R, Tornqvist K, et al. Anomalies in the permanent teeth and other oral findings in 29 individuals with Laurence -Bardet-Biedl. J Oral Pathol Med 1996;25:86–89 19. Majumdar U, Arya G, Singh S, et al. Oro-dental findings in Bardet-Biedl syndrome. BMJ Case Rep 2012;23:20–12 20. Lorda-Sanchez I, Ayuso C, Sanz R, et al. Does Bardet-Biedl syndrome have a characteristic face? J Med Genet 2001;38:E14 21. Tobin JL, Di Franco M, Eichers E, et al. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung’s disease in Bardet-Biedl syndrome. 2008;105:6714–6719 22. Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet 2013;21:8–13 23. Mahajan R, Kumar Batra Y, Kumar S, et al. Anesthetic management of a patient with Bardet-Biedl syndrome and dilated cardiomyopathy. Minerva Anestesiol 2007;73:191–194 24. Kjær I. Dental approach to craniofacial syndromes: how can developmental fields show us a new way to understand pathogenesis? Kjær I. Int J Dent 2012;2012:145–749

Surgical Management of Immature Teratoma Involving the Oral Cavity and Orbit in a Neonate Cemal Firat, MD,* Ahmet Hamdi Aytekin, MD,* Ayşe Nur Akatli, MD,† Ahmet Karadağ, MD,‡ Emine Şamdanci, MD† Abstract: Teratomas are congenital germ cell tumors composed of elements from 1 or more of the embryonic germ layers and contain

e578

tissues usually foreign to the anatomic site of origin. In the head and neck region, these lesions are rare, and 90% of head and neck teratomas present during the neonatal and infantile periods. Besides, in neonates, it carries serious risk for respiratory distress as well as feeding problems due to oral cavity and airway obstruction. Here, an unusual case of intraoral teratoma involving the orbit in a newborn who underwent immediate surgical excision successfully is described. Key Words: Immature teratoma, maxillectomy, intraoral mass

T

eratomas are congenital germ cell tumors composed of diverse tissues of ectodermal, mesodermal, and endodermal origin with variable levels of maturity. The incidence of teratomas is approximately 1:4000 in live births with an 18% of life-threatening malformations.1,2 A mature teratoma is typically benign and found more commonly in females, whereas an immature teratoma is typically malignant and is more often found in males. The most common sites of teratomas are the sacrococcygeal region, gonads, and mediastinum, respectively. In the head and neck region, these lesions are rare, and 90% of head and neck teratomas present during the neonatal and infantile periods.3 Besides, in neonates, it carries serious risk for respiratory distress as well as feeding problems due to oral cavity and airway obstruction.4 Therefore, surgical excision should be considered initially for definitive treatment. In the present study, we describe a neonate born with a large intraoral mass extending from the mandibular alveolar ridge to orbita who underwent surgical excision resulting in acceptable cosmetic and functional outcomes.

CLINICAL REPORT A 3-day-old female neonate born by normal vaginal delivery was referred to the neonatal intensive care unit with chief complaint of large intraoral mass causing feeding difficulties accompanied with breathing disorder. Intraoral examination revealed a soft, pedunculated tumoral mass with a rubber consistency that protruded from the left mandibular alveolar ridge and obliterated almost the whole oral cavity extending to the hard palate. On examination, the intraoral lesion measured 6  4  4 cm (Fig. 1). The magnetic resonance imaging findings revealed a mass including cystic solid areas that extended from the anterior mandibular alveolar ridge to the left orbita through the left maxillary sinus and nasal space. It had extended on from the optic channel adjacent to the left cavernous sinus, making destruction on the bony tissues and protruding the left orbita anterosuperiorly (Figs. 2A, B). The radiologic and clinical findings of the mass made us think of a soft tissue tumor, most likely to be a teratoma. Soon after the initial diagnosis, the patient underwent surgery under general anesthesia. A type IIIA maxillectomy was planned, and an intraoral lower gingivobuccal incision followed by Weber-Ferguson incision was made. A meticulous From the Medical Faculty, Departments of *Plastic Surgery, †Pathology, and ‡Paediatrics, Inonu University, Malatya, Turkey. Received May 1, 2014. Accepted for publication June 19, 2014. Address correspondence and reprint requests to Ahmet Hamdi Aytekin, MD, Inonu University, Turgut Ozal Medical Center, Department of Plastic Reconstructive and Aesthetic Surgery, 44280, Malatya, Turkey; E-mail: [email protected] The authors report no conflicts of interest. Copyright © 2014 by Mutaz B. Habal, MD ISSN: 1049-2275 DOI: 10.1097/SCS.0000000000001171

© 2014 Mutaz B. Habal, MD

Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.

The Journal of Craniofacial Surgery • Volume 25, Number 6, November 2014

FIGURE 1. Intraoperative view of the patient with large intraoral mass extending to the orbit.

dissection was performed toward the maxillary sinus with clear tissue planes carrying out to the intraorbital fossa. The zygomatic arch was osteotomized to allow access to the tumor. In addition, left side of the hard palate and all 6 walls of the maxilla, including the floor of the orbit and orbital contents, were resected. Orbital exenteration preserving the eyelids was performed to remove the orbital extension of the tumor completely. Furacin-soaked gauze tampon was placed into the maxillary defect followed by layer-wise primary closure of the incisions, and no complication was observed in the postoperative period. The excised specimen with a size of 10  5  5 cm was sent for histopathologic examination (Fig. 3). Microscopic examination revealed grade 3 immature teratoma with tumor-free surgical margins. The specimen included immature neuroepithelial cells that made tubule and rosette formation as well as immature chondroid and osteoid elements (Figs. 4A, B). The patient was discharged on the 20th day postoperatively and referred to pediatric oncology department for adjuvant chemotherapy (Fig. 5).

DISCUSSION Teratomas are rare entities composed of various tissues of endodermal, mesodermal, and ectodermal origin that show various degrees of maturation.5 Arnold classification has been generally accepted as being most useful,6,7 which includes dermoids (composed of 2 germinal layers: ectoderm and mesoderm), teratoid (composed of 3 poorly differentiated germinal layers, also known as immature teratomas), teratoma (3 germinal layers that are distinct and identifiable), and epignathi (fetus in fetu). Teratomas of the head and neck are extremely rare with an incidence of 2% to 9% of all teratomas and usually encountered in the neonatal period.8 It was reported to occur in 1 of 40,000 births. In general, lesions in the head and neck region account for 5% of all benign and malignant germ cell neoplasms. Common sites of involvement in this region include the neck, oropharynx, nasopharynx, orbit, and paranasal sinuses, respectively.9 Most of the cases occur in neonates and older infants, with equal distribution between males and females.10 Intraoral teratomas are rare among head and neck teratomas; however, they are more likely to be present at birth and early infancy. These lesions protrude from the mouth and may fill the oral cavity causing respiratory obstruction.5 In a review study about perinatal germ cell tumors conducted by Isaacs,11 it was mentioned that 16 cases had originated from the hard palate, 14 had originated

Brief Clinical Studies

FIGURE 3. View of the excised specimen.

from the nasopharyngeal region, 6 had originated from the sphenoid, and 6 cases originated from the oropharyngeal region. Teratomas are most likely to attach to the maxillary region, sphenoid, the lateral wall of the pharynx, and the palate.12,13 The differential diagnosis of an intraoral mass in a newborn should include hemangiomas, granular cell tumors, fibromas, granulomas, rhabdomyomas, xanthomas, lymphangiomas, and gingival cysts as well as teratomas.14 Histopathologically, teratomas are classified as either mature or immature due to the differentiation of the tumor cells.15 Mature teratomas contain several varieties of adult tissue, whereas immature teratomas contain incompletely differentiated components imitating fetal tissues. Both mature and immature forms contain tissues from all 3 germ layers that include bone, cartilage, skeletal muscle, bronchial epithelium, gut epithelium, and neural tissue. Immature teratomas may harbor malignant components and have the potential to exhibit an aggressive biologic behavior.10,16 O’Connor and Norris classified mature teratoma as grade 0 and immature teratoma as grade 3, based on the rate of immature elements and the mitotic rate.17 According to this classification, our case was grade 3 with immature neural elements as well. The computed tomography and magnetic resonance imaging may be useful to detect the location of the mass; however, the clinical diagnosis should be confirmed by histopathologic examination for probable further therapy. Of the neonates with head and neck teratomas, 25% die before surgery,18 and 80% die if the tumor is not removed in the neonatal period.19,20 Besides, in case the lesion causes respiratory distress and feeding difficulties, immediate surgical excision of the mass should be performed as soon as possible. Complete surgical resection is an adequate therapy for patients with pure mature teratomas.21 However, the outcome for patients with malignant germ cell tumors of pure or mixed histology (teratomas with malignant elements other than germinoma) treated with surgery

FIGURE 4. A, Primitive neuroepithelial cells forming rosettes (H&E, 200). B, Osseous tissue (on the right) and immature chondroid tissue (on the left) (H&E, 40).

FIGURE 2. A and B, MR image of the patient showing cystic solid areas that extended from the anterior mandibular alveolar ridge to the left orbita through the left maxillary sinus and nasal space protruding the left orbita anterosuperiorly.

FIGURE 5. Postoperative view of the patient on the 20th day.

© 2014 Mutaz B. Habal, MD

Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.

e579

The Journal of Craniofacial Surgery • Volume 25, Number 6, November 2014

Brief Clinical Studies

and/or radiotherapy is generally poor.22 On the basis of the controversial literature regarding response to chemotherapy, adjuvant chemotherapy may be considered in patients with grade 3 immature teratoma, because they may also be a component of a malignant germ cell tumor of mixed histology.23,24 The present study was a rare case where the patient recovered uneventfully after surgery, having a good airway and better appearance. Because death usually results from airway obstruction in neonates, a well-planned immediate complete surgical excision is suggested to treat head and neck teratomas especially where an intraoral mass is present.

REFERENCES 1. Pavlin JE, O’Gorman A, Williams HB, et al. Epignathus: a report of two cases. Ann Plast Surg 1984;13:452–456 2. Valente A, Grant C, Orr JD, et al. Neonatal tonsillar teratoma. J Pediatr Surg 1988;23:364–366 3. Azizkhan RG, Haase GM, Applebaum H, et al. Diagnosis, management, and outcome of cervicofacial teratomas in neonates: a Children’s Cancer Group study. J Pediatr Surg 1995;30:312–316 4. Rosenfeld CR, Coln CD, Duenhoelter JH. Fetal cervical teratoma as a cause of polyhydramnios. Pediatrics 1979;64:176–179 5. Yoon JH, Kim J, Park C. Congenital immature teratoma of the tongue: an autopsy case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2002;94:741–745 6. Coppit GL III, Perkins JA, Manning SC. Nasopharyngeal teratomas and dermoids: a review of the literature and case series. Int J Pediatr Otorhinolaryngol 2000;52:219–227 7. Rotenberg B, El-Hakim H, Lodha A, et al. Nasopharyngeal teratocarcinosarcoma. Int J Pediatr Otorhinolaryngol 2002;62:159–164 8. Becker S, Schon R, Gutwald R, et al. A congenital teratoma with a cleft palate: report of a case. Br J Oral Maxillofac Surg 2007;45:326–327 9. Myers E, Suen J, Myers J, et al. Cancer of the head and neck. In: Whittemore K, Cunningham M, eds. In Cancer of the Head and Neck in the Pediatric Population. 4th ed. Philadelphia: Saunders, 2003: 545–581 10. Barnes L, Eveson J, Reichart P, et al. Pathology and genetics of head and neck tumors. In: Cardesa A, Luna M, eds. In Germ Cell Tumours. 3rd ed. Lyon, France: IARC Press, 2005:76–79 11. Isaacs H Jr. Perinatal (fetal and neonatal) germ cell tumors. J Pediatr Surg 2004;39:1003–1013 12. Chaudhry AP, Lore JM, Fisher JE, et al. So-called hairly polyps or teratoid tumors of the nasopharynx. Arch Otolaryngol 1978;104:517–525 13. Hold GR, Hold JE, Weaver RG. Dermoids and teratomas of the head and neck. Ear Nose Throat J 1979;58:520–523 14. Guven S, Kaymakci A, Bugday MS, et al. Congenital granular cell tumor. J Craniofac Surg 2009;20:976–977 15. Mwang’ombe NJ, Kirongo G, Byakika WB. Frontoethmoidal teratoma. Case report. East Afr Med J 2002;79:10–107 16. Som PM, Curtin HD. Head and Neck Imaging. 4th ed. St Louis, MO: Mosby, 2003:361 17. Mann JR. Mature and immature extracranial teratomas in children. The UK Children’s cancer study group Experience. J Clin Oncol 2008;26:3590–3597 18. Onabanjo SO, Aghadiuno PU, Ogunniyi J, et al. Congenital benign extracranial teratoma in a Nigerian neonate. Childs Nerv Syst 1987;3:188–190 19. Arai H, Sato K, Kadota Y, et al. Skull base reconstruction in cases of intracranial teratoma extending into the extracranial structures. Surg Neurol 1992;38:383–390 20. Sarin YK. An unusual congenital nasopharyngeal teratoma. Pediatr Surg Int 1999;15:56–57 21. Gobel U, Calaminus G, Engert J, et al. Teratomas in infancy and childhood. Med Pediatr Oncol 1998;31:8–15 22. Marina NM, Cushing B, Giller R, et al. Complete surgical excision is effective treatment for children with immature teratomas with or

e580

without malignant elements: a Pediatric Oncology Group/Children’s Cancer Group Intergroup Study. J Clin Oncol 1999;17:2137–2143 23. Garrè ML, El-Hossainy MO, Fondelli P, et al. Is chemotherapy effective therapy for intracranial immature teratoma? A case report. Cancer 1996;77:977–982 24. Hoffman HJ, Otsubo H, Hendrick EB, et al. Intracranial germ-cell tumors in children. J Neurosurg 1991;74:545–551

Bilateral Condylar Resorption in Down Syndrome Cristina Grippaudo, DDS, Francesca Romana Grippaudo, MD, PhD, Tito Matteo Marianetti, MD, Laura Cacucci, DDS, Roberto Deli, MD, Sandro Pelo, MD Abstract: Asymptomatic idiopathic condylar resorption is a rare disease of difficult diagnosis and treatment. We review the literature about this rare condition and report a case of a patient, affected by Down syndrome, who underwent a complete untreated bilateral condylar resorption in adolescence and then developed pain on chewing only 20 years later. Despite a precise orthodontic and surgical therapeutic plan, treatment had to be discontinued because of patient lack of compliance. This case is the first of its kind to be reported and emphasizes the need for special attention in patients with disability. Key Words: Condylar resorption, Down syndrome, idiopathic condylar resorption

T

emporomandibular joint (TMJ) condylar resorption is a rare pathologic condition that presents both diagnostic and clinical management challenges. The most frequent inflammatory disorder affecting TMJ is rheumatoid arthritis, which is a chronic autoimmune inflammatory condition.1 The TMJ can be compromised unilaterally or bilaterally. Often, TMJ osteoarthrosis is painless, but patients may exhibit signs of a sudden open bite and class II relationships because of loss of posterior mandibular vertical dimension due to condylar bone loss. If unilateral, the condylitis causes mandibular asymmetry.2 Arnett and Tamborello3 and Tanaka et al4 describe factors capable of initiating changes in TMJ structure such as host-adaptive capacity factors, general illnesses, hormones, and mechanical stress factors. Arnett et al5 assert that condylar remodeling is a multifactorial process based on the interaction of mechanical stimuli and host-adaptive capacity. Functional remodeling without condylar alteration occurs when the host can react positively to mechanical stress; otherwise, a progressive condylar disruption can be observed. In the most severe cases reported, bone

From the Catholic University of Rome, Rome, Italy. Received November 25, 2013. Accepted for publication April 7, 2014. Address correspondence and reprint requests to Tito Matteo Marianetti, MD, Catholic University of Rome, Viale delle Province 55, Int.18 00162, Rome, Italy; E-mail: [email protected] The authors report no conflicts of interest. Copyright © 2014 by Mutaz B. Habal, MD ISSN: 1049-2275 DOI: 10.1097/SCS.0000000000001019

© 2014 Mutaz B. Habal, MD

Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.

Surgical management of immature teratoma involving the oral cavity and orbit in a neonate.

Teratomas are congenital germ cell tumors composed of elements from 1 or more of the embryonic germ layers and contain tissues usually foreign to the ...
868KB Sizes 0 Downloads 7 Views