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CLINICAL DENTISTRY AND RESEARCH 2016; 40(2): 79-85 Case ReportCLINICAL DENTISTRY AND RESEARCH 2016; 40(2): 79-85 Olgu Bildirimi
CorrespondenceÇiğdem Karaca, DDS, PhD
Department of Oral and Maxillofacial Surgery,
Faculty of Dentistry,
Hacettepe University
06100 Sıhhıye, Ankara, Turkey
Phone : +90 312 3052220
Fax: +90 312 3104440
E-mail: [email protected]
Hakan H. Tüz DDS, PhD Professor, Department of Oral and Maxillofacial Surgery,
Faculty of Dentistry, Hacettepe University,
Ankara, Turkey
Çiğdem Karaca DDS, PhD Research Assistant, Department of Oral and Maxillofacial Surgery,
Faculty of Dentistry, Hacettepe University,
Ankara, Turkey
Emre Tosun DDS, PhDAssistant Professor, Department of Oral and Maxillofacial Surgery,
Faculty of Dentistry, Hacettepe University,
Ankara, Turkey
Ömer Günhan MD, PhDProfessor, Gülhane Military Medical Academy,
Department of Pathology,
Ankara, Turkey
MucoPolySaccHariDoSiS TyPE Vi PaTiEnT wiTH an oDonToGEnic MyxoMa
aBSTracT
Mucopolysaccharidosis (MPS) Type VI, is a metabolic disorder caused
by the deficiency of arylsulfatase B. This results in accumulation of
glycosaminoglycans (GAGs) in the tissue and causes multiple organ
and system dysfunction. The odontogenic myxoma is defined as a
bening odontogenic tumor originated by dental papilla, periodontal
ligament and dental follicule. It is usually detected with an impacted
tooth especially in the mandible. The clinical manifestations of
MPS Type VI have been fully described in the literature. The most
common oral findings of the MPS VI are the impacted teeth and
the radiolucent areas around them. However, according to our
knowledge, there is no report about a MPS VI patient in odontogenic
myxoma. Also in histological examination, the contents of GAGs in
both odontogenic myxoma and MPS VI are similar. The aim of this
case report is to emphasize the importance of the early diagnosis
to prevent the possible complications after the surgical treatment
in a MPS VI patient. Presenting similar histological components
between MPS VI and myxoid tumors is another aim of this report.
However, further case reports and researchs are needed to notify a
relationship among them.
Keywords: Glycosaminoglycan, Mucopolysaccharidosis,
Myxoid Tumor, Odontogenic Myxoma, Odontogenic Tumor
Submitted for Publication: 09.04.2014
Accepted for Publication : 05.22.2015
Clin Dent Res 2016: 40(2): 79-85
CLINICAL DENTISTRY AND RESEARCH 2016; 40(2): 79-85 Olgu Bildirimi
Sorumlu yazarÇiğdem Karaca
Hacettepe Üniversitesi,
Diş Hekimliği Fakültesi, Ağız Diş ve Çene Cerrahisi Anabilim Dalı,
06100 Sıhhiye Ankara, Türkiye
Telefon : +90 312 3052220
Faks: +90 312 3104440
E-mail: [email protected]
E-mail: [email protected]
Hakan H. TüzProf. Dr. Hacettepe Üniversitesi, Diş Hekimliği Fakültesi,
Ağız Diş ve Çene Cerrahisi Anabilim Dalı,
Ankara, Türkiye
Çiğdem Karaca Araş. Gör. Hacettepe Üniversitesi,
Diş Hekimliği Fakültesi, Ağız Diş ve Çene Cerrahisi Anabilim Dalı,
Ankara, Türkiye
Emre TosunYar. Doç. Dr. Hacettepe Üniversitesi, Diş Hekimliği Fakültesi,
Ağız Diş ve Çene Cerrahisi Anabilim Dalı,
Ankara, Türkiye
Ömer GünhanProf.Dr. Gülhane Askeri Tıp Akademisi,
Patoloji Anabilim Dalı,
Ankara, Türkiye
TiP Vi MuKoPoliSaKKariDoz HaSTaSinDa oDonTojEniK MiKSoMa
Öz
Tip VI mukopolisakkaridoz (MPS), arilsülfataz enzimi yetersizliği nedeniyle oluşan metabolik bir hastalıktır. Bu durum, dokularda glikozaminoglikan (GAG) birikimine neden olarak, birden fazla doku ve organda fonksiyon bozukluğuna yol açar. Odontojenik miksoma, dental papilla, periyodontal ligament ve dental follikülden köken alan iyi huylu odontojenik tümör olarak tanımlanmaktadır. Özellikle mandibulada ve gömülü bir dişle birlikte izlenmektedir. Tip VI MPS’ nin klinik özellikleri literatürde tanımlanmaktadır. MPS VI’nin en sık karşılaşılan oral bulguları gömülü dişler ve gömülü dişlerin çevresindeki radyolüsent alanlardır. Ancak, bugüne kadarki bilgimize göre MPS VI hastasında odontojenik miksoma izlendiğine dair bir rapor bulunmamaktadır. Aynı zamanda hem MPS VI hastalığında hem de odontojenik miksomanın histolojik değerlendirmesinde GAG içerikleri benzer bulunmaktadır. Bu vaka raporunun amacı, MPS VI hastasında cerrahi tedavi sonrası olası komplikasyonları önlemek için erken teşhisin önemini vurgulamaktır. Aynı zamanda MPS VI ve miksoid tümörler arasındaki benzer histolojik bileşenlere bir bakış açısı oluşturmaktır. Ancak her ikisi arasındaki ilişkiyi açığa çıkaracak daha başka vaka sunumlarına ve araştırmalara ihtiyaç duyulmaktadır.
anahtar Kelimeler: Glikozaminoglikan, Mukopolisakkaridoz,
Miksoid Tümör, Odontojenik Miksoma, Odontojenik Tümör
Yayın Başvuru Tarihi : 04.09.2014
Yayına Kabul Tarihi : 22.05.2015
Clin Dent Res 2016: 40(2): 79-85
80
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Mucopolysaccharidosis Type Vi
CLINICAL DENTISTRY AND RESEARCH 2016; 40(2): 79-85 Olgu BildirimiinTroDucTion
Odontogenic myxoma is classified as a bening odontogenic
tumor of ectomesenchymal origin with or without
odontogenic epithelium according to WHO.1 There has been
a great deal of controversy regarding the origin of myxoid
tumors because of their uncertain histogenesis with a
characteristic apparance. Histochemical studies show that
the ground substance in odontogenic myxoma is composed
of glycosaminoglycans, especially hyaluronic acid and
chondroidin sulfate.2,3
Mucopolysaccharidosis (MPS), is a metabolic disorder
caused by the absence or malfunction of lysosomal
enzymes which are responsible for degradation of
glycosaminoglycans (GAGs). This results in accumulation of
GAGs in intra and extracellular matrix and causes multiple
organ and system dysfunction.4 MPS VI which is a type of
the MPS is an autosomal recessive disease that occurs
following a mutation on the short arm of chromosome 5
and resulted in the functional deficiency of arylsulfatase
B.5 Arylsulfatase B is an enzyme which is participated in
degradation of a glycosaminoglycan macromolecule called
dermatan sulfat (DS). DS is responsible for the formation,
growth, maintenance and repair of connective tissue, bone,
cartilage and periodontal tissues.6,7 Oral manifestations
of MPS VI patients are macroglossia, anterior open bite,
posterior cross bite, high arched palate, enlargement of
alveolar process, gingival hyperplasia, multiple diastema,
supernumerary teeth, delayed eruption of permanent teeth,
deficiency of temporomandibular joint, impacted teeth,
large dental follicles and dentigerous cysts.4,5,8,9
In this paper we present a MPS Type VI patient with an
odontogenic myxoma around the impacted teeth in the
mandible. Although dentigerous cyst around the impacted
teeth was defined in MPS VI patient in some anecdotal
reports, to our knowledge no similar case has been reported
in the English written literature so far. Also it will discuss
the controversial etiology of odontogenic myxoma and the
possible relation among MPS VI and odontogenic myxoma.
caSE rEPorT
A 30-year-old male patient with MPS Type VI, was referred to
Hacettepe University, Department of Oral and Maxillofacial
Surgery with a complaint of a rapidly growing mass in his
mouth on May 2013. The patient stated that he had noticed
a small lesion behind his mandibular teeth and referred to a
specialist in a different center. An incisional biopsy of the
nodule-like lesion on the crest of left posterior mandible had been performed under local anesthesia in the same center, which reported the lesion as relevant with ameloblastoma. The patient had noted that the lesion grew so rapidly after biopsy that obstructed the left half of the oral airway and caused bleeding due to occlusal trauma. He complained for difficulty in breathing, speaking and swallowing. He also experienced difficulty in maintaining oral hygiene, which leads to halitosis. Intraorally, a sessile and ulcerated soft tissue mass was detected from the left mandibular second premolar to retromolar trigonum. The lesion passed the occlusal surface of the mandibular teeth and expanded to the parapharyngeal area. First and second molars were absent (Figure 1). First and second premolars were mobile. The patient had also facial asymmetry because of the expansion of the lesion. Though the occlusion could not be observed due to the obstacle of the lesion, posterior cross-bite and macroglossia could be noted. Radiographic examination revealed multiple impacted molar teeth in the maxilla and the mandible. Enlargement of bone trabeculae in maxilla and mandible, thickening of the mandibular basis and flattening in the condylar heads were observed. In the left mandibular posterior, a radiolucent lesion within radioopaque striae with irregular margins was identified on the orthopantomogram. It was located between mandibular second premolar and the ascending ramus mesiodistally and from the crest of the mandible to the mandibular basis apicocoronally. Impacted first and second molars were associated with the lesion. Resorption of the root of second premolar was also observed (Figure 2). On computed tomography scans, unilocular radiolusent lesion was observed in the left posterior mandible. Expansion of the buccal and lingual bone crest was noted.The extraoral and intraoral findings of the patient were characteristic of MPS VI. In extraoral examination, a coarse face, short stature, short hands, fingers with claw-like apparance, joint stiffness in the extremities and gait disorder were present.The family pedigree revealed that the parents are nonconsanguineous. The patient has an older brother who is also MPS VI. The parents have no history of the disease and their sons are the only affected persons in the family.The biopsy samples were sent to another oral pathologist in order to confirm the diagnosis. However it was commented that the specimens did not show characteristics of ameloblastoma but were more relevant with “fibromyxoid
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CLINICAL DENTISTRY AND RESEARCH
connective tissue and slight dense chronic inflammation”. Therefore, a second incisional biopsy was performed under local anesthesia. New specimen was reported as “relevant with odontogenic myxoma”. The patient was operated under general anesthesia through fiberoptic nasal intubation. Mandibular premolar teeth and impacted teeth were removed with excision of the lesion and remnants were curretaged (Figures 3-4). Operation site was sutured primarily after bleeding control. The patient was left intubated at the end of the surgery because of the risk of respiratory arrest and admitted to the intensive care unit for close follow up. He was extubated 24 hours after operation and kept on follow up in the intensive care unit for 3 days. Although postoperative
complications associated with airway management was not observed, hoarseness was detected after the extubation. As a result of an otolaryngologist consultation, hoarseness was related to the edema of the vocal cords caused by intubation diffuculties and administration of cold steam was suggested. The patient was followed up for a week
Figure 1. Intraoral apperance of the lesion after 4 days following the incisional biopsy taken from another center.
Figure 2. Orthopantogram shows a radiolucent lesion with irregular margins and displacement of the impacted molar teeth.
Figure 3. Intraoral appearance after the removal of the lesion.
Figure 4. Histopathologic spesmen of the lesion and the extracted teeth.
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Mucopolysaccharidosis Type Vi
and discharged with postoperative recommendations. His follow-up control revealed no sign of recurrence nor any infection and uneventful healing at the wound site was noted at 7th day after operation. Excisional biopsy was also diagnosed as “odontogenic myxoma”(Figures 5-6). Unfortunately, 3 days later, he was referred to Hacettepe University, Department of Internal Medicine with complaints of coughing, high fever and expectorating the sputum. He was hospitalized with diagnosis of pneumonia. Because of the decrease in oxygen saturation, he was admitted to the intensive care unit again. Intravenous clarithromycin was administered for 12 days. He improved uneventfully in the intensive care unit. The patient was given postoperative recommendations and kept on regular monthly follow-up visits.
DiScuSSion
Two forms of myxomas in the head and neck region was identified: (1) “facial bone” derived, which had been subdivided into true osteogenic myxoma and odontogenic myxoma; (2) “soft tissue” derived myxoma, derived from the perioral soft tissue, parotid gland, ear, and larynx.10 Although osteogenic myxoma has not been accepted anymore, odontogenic myxoma is believed to be a bening neoplasm arising from odontogenic ectomesenchyme.3 It originates from dental papilla, dental follicule or periodontal ligament. Odontogenic myxoma has been considered to be a neoplasm of odontogenic origin but some authors suspected the origin of the tumor because of its unknown histogenesis. Slootweg et al.11 concluded that the GAG content of odontogenic myxoma is much higher than that reported for other dental tissues, thus arguing against the odontogenic origin of the tumor. In addition, they also argued that myxomas may also develop in the sinonasal tract and other facial bones that originate from the nonodontogenic mesenchyme.
The differences in the biochemical composition of the odontogenic myxoma compared with the dental tissues is supported by the findings of Sakamoto et al.13 and Embery12
who studied the GAG’ s contents in human dental pulps and found that dermatan sulfate is present in higher proportion than what is found in odontogenic myxoma. Contrary to the these findings, in a different investigation it was suggested that odontogenic mesenchymal origin of the odontogenic myxoma has a strong possibility even though odontogenic epitelial islands are not present in the lesion.14 Also these lesions occur in the tooth-bearing areas of the jaws. They are associated with an impacted tooth and are showed different
amounts of odontogenic epitelium in histopathologic examination.15 Zhao et al.16, studied immunohistochemical and histochemical characterization of the mucosubstances of odontogenic myxoma and showed that hyaluronic acid is a common component of the odontogenic myxoma but dermatan sulfate is also present in the lesion. A different study group also investigated immunohistochemical and ultrastructural features of odontogenic myxoma of the jaws and showed that extracellular matrix of the lesion contained abundant acid and neutral mucopolysaccharides.17 Odontogenic myxomas are asymptomatic lesions but in some cases clinical growth of the tumor may be rapid; this is explained by the accumulation of myxoid ground
Figure 5. Invasion of the tumoral lesion into the epitelium of the oral mucosa with irregular margins. (Stain: Haematoxylinandeosin, magnification x 40)
Figure 6. Histology of the tumoral lesion showing fibroblastic cells with ovoid nuclei in a basophilic, loose myxoid ground substance. (Stain: Haematoxylinandeosin, magnification x 100)
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CLINICAL DENTISTRY AND RESEARCH
substance in the tumor because mitoses are rarely seen in these lesions.3 The extracellular matrix of the odontogenic myxoma is rich in chondroitin sulfate and hyaluronic acid.18 The high content of hyaluronic acid in the odontogenic myxoma is related to the local aggresiveness and the high recurrence rate of odontogenic myxoma. Because it is known that hyaluronic acid rich extracelluler matrix encourages cell migration and proliferation.16,19 In addition to the biologic behavior of the odontogenic myxoma, the accumulation of GAGs is tissue-spesific in MPS VI, such as that 80% of accumulated GAGs in hepatocyte are dermatan sulfates while up to 90% of GAGs in bone and kidney are chondroitin sulfates. This result suggest that chondroitin sulfate may play an important role in the bone manifestations of MPS VI.20 Although there is no proof that revealed any relationships between the odontogenic myxoma and MPS VI in the literature, the accumulation of the similar GAGs in both entity seems questionable. There are many reports of clinical manifestations of systemic MPS but oral and maxillofacial manifestations have not been fully described in the literature. However, impacted teeth and localized radiolucent areas resembling like dentigerous cysts are frequently reported.9,21,22,23 Impacted teeth and enlargement of dental follicule are caused by abnormal accumulation of DS in periodontal tissues;9 because DS is the main GAG in developing of periodontal ligament with its important roles in periodontal adhesion to the alveolar bone and root cementum.6 Transformation of a dental follicule into a dentigerous cyst is explained as metaplasia of the follicule epitelium caused by the accumulation of the mucopolysaccharides.21 The possiblity of developing an odontogenic cyst is identified in the MPS VI patients but it has not been mentioned about a MPS VI patient with an odontogenic tumor in the literature up to the present.There is a risk of postoperative infection and incidence of cardiac and respiratory complications in MPS patients after invasive surgical procedures. These complications usually result in deaths of these patients by the second decade of their lifes.24 Also the accumulation of GAGs on airway complicate the anesthesia,25 so general anesthesia carries a high risk for MPS patients. So preventive care in dental treatment was recommended in these patients. Unfortunately, dentists have a limited role in treating patients with MPS Type VI because dental care is primarily symptomatic. Invasive procedures are suggested to be avoided because of the increased incidence of postoperative
infection, cardiac and respiratory problems in these patients.5,26 However, it was suggested that all impacted teeth with thickened dental follicule should be treated as soon as possible to prevent possible cyst formation.23 In our case, the patient had a large odontogenic myxoma around impacted teeth in the mandible. It was mandotary to excise the tumor under general anesthesia since the lesion reached to a size that obstruct half of the oral airway leading to life threatening conditions. On the other hand, two complications were experienced postoperatively. The patient had suffered hoarseness immediately after extubation lasting more than 20 days, which could be attributed to the diffuculty during intubation. He also developed pneumonia, which was diagnosed postoperative 10 days after the surgery, and he was followed in the intensive care unit with a high risk of mortality. In this presentation, the controversial about the origin of the odontogenic myxoma and the possible relation between the MPS and the myxoid tumors were tried to emphasized. In MPS patients, both geneticist and dentists should be aware of oral manifestations to avoid complicated procedures. Since our English written literature review revealed no similar cases about MPS VI patient with an odontogenic myxoma, further reports are needed to identify both the immunohistochemical characteristics of the odontogenic myxoma and the relationship between the myoid tumors and MPS.
acKnowlEDGEMEnT
This case was reported as a poster presentation at AÇBID 8th International Congress in May the 28th-June the 1st, 2014. The authors report no conflicts of interest related to this case report. This study was not funded.
rEFErEncES
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2. Farman AG, Nortje CJ, Grotepass FW, Farman FJ, van Zyl JA. Myxofibroma of the jaws. Br J Oral Surg 1977; 15: 3–18.
3. Neville BW, Damm DD, Allen CM, Bouquot JE. Odontogenic Cysts and Tumors. In: Rudolph P, Alvis K, Forest E, editors. Oral and Maxillofacial Pathology. Pennsylvania: W.B. Saunders Company; 2002. p. 635-637.
4. Antunes LA, Nogueira AP, Castro GF, Ribeiro MG, de Souza IP. Dental findings and oral health status in patients with mucopolysaccharidosis: a case series. Acta Odontol Scand 2013; 71: 157-167.
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5. Cavaleiro RM, Pinheiro Md, Pinheiro LR, Tuji FM, Feio Pdo S, de Souza IC, et al. Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint. Oral Surg Oral Med Oral Pathol Oral Radiol 2013; 116 : 141-148.
6. Fuji T, Hirabayashi Y. Histochemical studies of glycosaminoglycans in developing periodontal ligaments of ICR mice. Anat Rec 1999; 254: 465-473.
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16. Zhao M, Lu Y, Takata T, Ogawa I, Miyauchi M, Mock D et al. Immunohistochemical and histochemical characterization of the mucosubstances of odontogenic myxoma: histogenesis and differential diagnosis. Pathol Res Pract 1999; 195: 391-397.
17. Lo Muzio L, Nocini P, Favia G, Procaccini M, Mignogna MD. Odontogenic myxoma of the jaws: a clinical, radiologic, immunohistochemical, and ultrastructural study. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1996; 82: 426-433.
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20. Tamara Alliston. Chondroitin sulfate and growth factor signaling in the skeleton: Possible links to MPS VI. J Pediatr Rehabil Med 2010; 3: 129-138.
21. De Almeida-Barros RQ, Oka SC, Pordeus AC, de Medeiros PF, Bento PM, Godoy GP. Oral and systemic manifestations of mucopolysaccharidosis type VI: a report of seven cases. Quintessence Int 2012; 43: e32-38.
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