J Korean Acad Pediatr Dent 41(2) 2014 ISSN (print) ISSN (online) Basal Cell Nevus Sy

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1 ISSN (print) ISSN (online) Basal Cell Nevus Syndrome : A Case Report Jeeyoun Kim, Sohee Oh Department of Pediatric Dentistry, Sacred Heart Hospital, Hallym University Abstract The basal cell nevus syndrome is also known as the Gorlin-Goltz syndrom. It is a dominant autosomal disorder which is characterized by keratocystic odontogenic tumors in the jaw, skeletal abnormalities, and multiple basal cell nevi carcinomas. This study reports an 11-year-old boy with multiple odontogenic keratocysts in the jaw, hypertelorism, and frontal bossing. When a young patient has cystic lesions with an impacted permanent teeth, it is important to preserve the teeth. For a growing patient with impacted permanent teeth, a more conservative method is suggested, which will enable the preservation the permanent teeth in Gorlin-Goltz syndrome. Key words : Basal cell nevus syndrome, Impacted permanent teeth, Keratocystic odontogenic tumor Ⅰ. 서론기저세포모반증후군, Gorlin-Goltz syndrome은발병률 1:60,000이며 1), 남녀성비의차이가없이일반적으로임상증상이 30세이전에발생한다 2). 1894년처음으로보고된이래로, 1959년 Howell과 Caro 3) 가피부암등이기저세포모반과관련있음을밝히고, 1960년 Grolin과 Goltz 4) 는다수의기저세포암종, 이열늑골그리고악골의다발성낭과같은임상소견이함께나타난환자 2명을발표하며증후군으로제시하였다. 1982년 Howell과 Anderson 5) 은이증후군의특징으로 5 가지주요소견인다발성기저세포모반, 악골낭, 이열늑골, 손, 발바닥의소와, 이소성석회화를발표하였다. 특히한국인에서는다발성각화낭성치성종양, 손, 발바닥의소와, 그리고양안격리증이높은임상적특징으로나타난다고한다 6). 치과영역에서기저세포모반증후군환자의치료는악골에발생한다발성낭종에대한치료와낭종에이환된매복된치아에대한치료가주된관심사이다. 낭종으로인하여발생한악골의결손부는다양한형태의이식재를통하여치료될수있으며 이때사용할수있는이식재중에서가장우선적으로고려되는것은자가골이식이나증후군환자의경우나이가어린경우가많아서적합한자가골이식의공여부를찾기가어려운경우가많다. 이러한경우에는동종골이나이종골을이용한이식도고려할수있다. 본증례에서는낭종적출술및이종골이식술과교정치료를통하여양호한결과를얻어이에보고하는바이다. Ⅱ. 증례보고만 11세남아로 2010년 2월하악좌측제1, 2유구치하방종창을주소로본원에내원하였다. 환아는출생직후삼각두 (trigonocephaly, metopic suture synostosis) 로서울대학교병원에서두개성형술을받았으며경도의뇌실확장 (ventriculomegaly) 이있었으나수두증에대한치료를요할정도가아니어서경과를관찰중이었다. 환자의방사선검사결과상악좌, 우측견치부위, 상악좌측제2, 3대구치부위, 하악우측제1, 2, 3대구치부위, 하악좌측제1, 2, 3대구치부위, 하악전치부 Corresponding author : Sohee Oh Department of Pediatric Dentistry, Sacred Heart Hospital, Hallym University, 22, Gwanpyeong-ro 170 beon-gil, Dongan-gu, Anyang-si, Gyeonggi-do, , Republic of Korea Tel: / Fax: / pedopia@hallym.ac.kr Received November 5, 2013 / Revised November 27, 2013 / Accepted November 27,

하방부위에매복된하악좌측견치를포함하는다양한크기의각화낭성치성종양을보였으며임상적으로는하악좌측제1, 2 유구치부위의협측피질골의비박,

만 11세에전신마취하에상악좌, 우측견치부위, 상악좌측제1, 2, 3대구치부위, 하악우측제1, 2, 3대구치부위, 하악좌측제2, 3대구치부위,

Collagen (BOC), Geistlich Pharma AG, Wolhusen, Switzerland) 을이식하여골형성을도모하였다.

술후조직검사결과하악우측제2, 3대구치부위, 하악좌측제2, 3대구치부위, 하악전치부하방부위에서 Hematoxyllin and eosin

5~10층이하의중층편평상피세포로덮여있었고하층결합조직은얇고불규칙한콜라겐다발로이루어져있어전형적인각화낭성치성종양의조직학적소견을보여주었다 (Fig. 3).

2 하방부위에매복된하악좌측견치를포함하는다양한크기의각화낭성치성종양을보였으며임상적으로는하악좌측제1, 2 유구치부위의협측피질골의비박, 팽윤이관찰되었으며양안격리증및전두정융기를보였다 (Fig. 1). 만 11세에전신마취하에상악좌, 우측견치부위, 상악좌측제1, 2, 3대구치부위, 하악우측제1, 2, 3대구치부위, 하악좌측제2, 3대구치부위, 하악전치부하방부위의각화낭성치성종양의낭종적출술및상악좌측제3대구치, 하악좌, 우제3 대구치의발치를시행하였고, 낭종적출술후인공골 (Bio-Oss Collagen (BOC), Geistlich Pharma AG, Wolhusen, Switzerland) 을이식하여골형성을도모하였다. 낭종으로인 하여하악하연부위에매복되었던하악좌측견치의보존적치료를위하여이식재상에재위치하였다 (Fig. 2). 술후조직검사결과하악우측제2, 3대구치부위, 하악좌측제2, 3대구치부위, 하악전치부하방부위에서 Hematoxyllin and eosin 염색에서낭종의내면은주름진형태로 5~10층이하의중층편평상피세포로덮여있었고하층결합조직은얇고불규칙한콜라겐다발로이루어져있어전형적인각화낭성치성종양의조직학적소견을보여주었다 (Fig. 3). 가장큰각화낭성치성종양을보였던하악전치부및좌측견치이외의수술부위는큰이상없이치료되었으나하악전치부및하악좌측견치부위는인공골이식으로인한골석회화소 Fig. 1. (A, B) Initial extraoral photograph. (C) Axial CT scan shows thinning of lingual cortical bone and thinning, expansion and perforation of buccal cortical bone of mandible. (D) Initial panoramic view. Large odontogenic keratocyst involving an impacted canine with unilocular and scalloped borders. (E) lateral cephalogram. (F) Posteroanterior cephalogram. 167

(B)(C)(D) Intraoral photograph after surgery. Fig. 3.

keratocystic odontogenic tumor of lower left canine

1년후미맹출된하악좌측제1소구치, 그리고하악좌측견치의치관에교정버튼을부착하여교정적으로정출시키기시작하였다 (Fig.

3 Fig. 2. (A) Panoramic view of after cyst enucleation and xenograft. (B)(C)(D) Intraoral photograph after surgery. Fig. 3. Pathological finding exhibits the histological features of a keratocystic odontogenic tumor of lower left canine area(haematoxylin and eosin stain, original magnification: X 400). Fig month after xenograft and lower left canine replantation. 견이나타났다 (Fig. 4). 낭종적출술후낭종으로인하여변위및매복되었던치아의자발적맹출을기대하였으나, 자발적맹출이이루어지지않아수술 1년후미맹출된하악좌측제1소구치, 그리고하악좌측견치의치관에교정버튼을부착하여교정적으로정출시키기시작하였다 (Fig. 5). 이후하악치열에에지와이즈장치를사용하여교정치료를시행하였다. 수술후 3년 8개월이지난지금, 각화낭성치성종양이있었던위치인 하악정중부의경우, 방사선사진상으로낭종부위는재발소견없이잘치유되고있으며변위되었던하악좌측제1소구치의적절한배열을이루었으며이식된이종골의일부는여전히방사선불투과성결절로관찰되었다. 각화낭성치성종양으로인하여하악하연에매복되어있었던하악좌측견치의경우, 골성유착을보여외과적으로재식후경과관찰중이다 (Fig. 6, 7). 168

orthodontic traction of lower left canine and first premolar.

6. (A, B) Intraoral photograph of 3 years after surgery.

preparing the reimplantation site at the apical end of the

(C) Panoramic view of 3 years after surgery.

4 Fig. 5. (A) Intraoral photograph of 1 year after cyst enucleation, orthodontic traction of lower left canine and first premolar. (B) Periapical view of 1 year after cyst enucleation, orthodontic traction of lower left canine and first premolar. Fig. 6. (A, B) Intraoral photograph of 3 years after surgery. Extracted lower left canine was put into position by preparing the reimplantation site at the apical end of the socket to accommodate the tooth in the new position. (C) Panoramic view of 3 years after surgery. Radiographically, no cystic lesion was detected and new bone formation is observed. 169

Fig. 7. (A, B) Intraoral photograph of 3 years 8 month after surgery. (C) Panoramic view of 3 years 8 month after surgery. Ⅲ. 총괄및고찰기저세포모반증후군환자의 65~100% 에서악골의각화낭성치성종양이발생한다 7,8).

3이원인유전자로상염색체우성으로 97% gene penetrance를갖지만환자의증상은다양하게나타난다 11,12). 또한 Patched (PTCH) 라불리는 9q22.

1976년 Brannon 15) 은각화낭성치성종양의높은재발률에대하여위성세포의존재, 낭종의불완전한적출, 주변부위의각화낭성치성종양재발을이유로들었다. 각화낭성치성종양의치료방법에는낭종적출술, carnoy s solution과함께낭종적출술을시행하는방법, 조대술, 그리고골절제술이있다.

5 Fig. 7. (A, B) Intraoral photograph of 3 years 8 month after surgery. (C) Panoramic view of 3 years 8 month after surgery. Ⅲ. 총괄및고찰기저세포모반증후군환자의 65~100% 에서악골의각화낭성치성종양이발생한다 7,8). 각화낭성치성종양은위성낭, 가성및진성각화상피로재발의가능성이높다 9). 일반적인각화낭성치성종양의발생연령은우리나라에서평균 30.8세이지만이증후군에서발생한각화낭성치성종양의경우, 발생연령이평균 22세로나타나조기에발생함을알수있다 10). 본환자의경우 11세에발견되어평균보다이른시기에발생하여내원한것을알수있다. 기저세포모반증후군은종양억제유전자로알려진염색체 9q22.3이원인유전자로상염색체우성으로 97% gene penetrance를갖지만환자의증상은다양하게나타난다 11,12). 또한 Patched (PTCH) 라불리는 9q22.3염색체상에위치하는종양억제유전자가기저세포모반증후군의원인으로밝혀졌고 1,13) 그이외에도 Patched 2 (PTCH2), Smmothened (SMO), Sonic hedgehog (SHH) 유전자가원인으로밝혀져있다 14). 본환자의부모와다른형제검사결과정상으로판명되었으며문진결과가족력은없었다. 1976년 Brannon 15) 은각화낭성치성종양의높은재발률에대하여위성세포의존재, 낭종의불완전한적출, 주변부위의각화낭성치성종양재발을이유로들었다. 각화낭성치성종양의치료방법에는낭종적출술, carnoy s solution과함께낭종적출술을시행하는방법, 조대술, 그리고골절제술이있다. 각화낭성치성종양의치료를위해 Nakamura 16) 는각화낭성치성종양으로매복된치아가조대술혹은감압술후정상맹출하는경우를보고하였다. 또한 Pogrel 17) 은조대술을시행한 13개의증례보고를통해각화낭성치성종양이임상적, 방사선학적으로없어졌음을보고하였으며조대술시행시, interleukin-1a와세포증식등이억제되면서각화낭성치성종양의침습적인성향이감소됨이보고된바있다 18). 그러나조대술시행시두번의수술이필요할수있으며낭종조직을남겨놓는다는문제점과재발가능성이낭종적출술에비하여높다는점이있다 19,20). 낭종적출술과 carnoy s solution을사용한경우, 골절제술과비슷한수준으로재발률을낮출수있지만본증례와같이하치조신경이낭종부위에이환된경우, 지각마비와같은부작용이있을수있다 21). 골절제술의경우에는안면변형, 치아의상실, 이식골의감염, 하치조신경이낭종부위이환시의감각소실과 170

6 같은부작용을나타낼수있다 19). 그리하여가장낮은재발률을나타내는데도불구하고, 잔여성장량이남은청소년기이전의환자에서는이와같은부작용으로인하여일반적으로사용되지않는다. 본환자에서는각화낭성치성종양과병소에의해하악하연으로변위된치아의치료를위해각화낭성치성종양의적출술후병소에이환된치아의의도적재위치및낭종적출후발생한골결손부에대한이종골이식을시행하였다. 낭종은수술후3년이지난현재재발소견없이골결손부는잘치유되었으며흡수되지않고남아있는것으로보이는이식골이방사선불투과성결절로관찰되었다. 또한하악부위의지각이상없이정상적인소견을보이고있다. 이종골이식부위의잔여성장에대하여는보고된바가거의없다. 상기증례의경우이식부위에잔존이식재로보이는방사선불투과성결절이다수관찰되는데, 이종이식재의경우오랜기간흡수되지않고잔존한다는보고가다수존재한다 22). 하지만이러한잔존이식재가환자의성장에미치는영향에대하여는체계적으로연구된논문이거의없다. 성장기아동에서이종골이식재가악안면영역에사용된경우에치조열환자에서견치의맹출을유도하기위하여사용된증례가보고된바있다 23). 이들증례에서이식재로인한성장장애는보고된바없고치아의이동도성공적으로일어난것으로대부분보고하고있다 24). 본증례에서도이식재상의치아들이교정력에의하여이동된것으로보여이식재의사용이성장기아동에서치아이동에미치는영향은없는것으로보인다. 향후하악골성장양상은추가적인관찰이필요하나이식재의사용으로인한골성장장애는없을것으로보인다. Ⅳ. 요약기저세포모반증후군을가진환자의치료에서각화낭성치성종양의낭종적출술과이종골이식술후낭종에의해변위된치아의보존적치료를위해교정력을이용하여치아의이동을시도하여적절한배열을이루었고, 하악하연부위에매복되었던하악좌측견치의경우, 골성유착을보여외과적재식술후경과관찰중으로특이사항은발견되지않고있다. 수술부위역시술후약3년8개월이지난지금, 재발소견은관찰되지않고있다. 추후낭종의재발및기저세포모반증후군의여러이상증상을고려하여주기적인검사가필요하다. References 1. Gorlin RJ : Nevoid basal cell carcinoma (Gorlin) syndrome: unanswered issues. J Lab Clin Med, 134: , Nicolatou O, Kakarantza-Angelopoulou E : Odontogenic keratocysts: clinicopathologic study of 87 cases. J Oral Maxillofac Surg, 48: , discussion , Howell JB, Caro MR : The basal-cell nevus: its relationship to multiple cutaneous cancers and associated anomalies of development. AMA Arch Derm, 79:67-77, discussion 77-80, Gorlin RJ : Nevoid basal cell carcinoma syndrome. Dermatol Clin, 13:113-25, Howell JB, Anderson DE : The basal-cell nevus by Howell and Caro, January Commentary: The nevoid basal cell carcinoma syndrome. Arch Dermatol, 118: , Ahn SG, Lim YS, Kim DK, et al. : Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals. Int J Oral Maxillofac Surg, 33: Evans DG, Ladusans EJ, Rimmer S, et al. : Complications of the nevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet, 30: , Southwick GJ, Schwartz RA : The basal cell nevus syndrome: disasters occurring among a series of 36 patients. Cancer, 44: , Stoelinga PJ, Peters JH, van de Staak WJ, et al. : Some new findings in the basal-cell nevus syndrome. Oral Surg Oral Med Oral Pathol, 36: , Myoung H, Hong SP, Hong SD, et al. : Odontogenic keratocyst: Review of 256 cases for recurrence and clinicopathologic parameters. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 91: , Gorlin RJ, Sedano HO : The multiple nevoid basal cell carcinoma syndrome revisited. Birth Defects Orig Artic Ser, 7: , Howell JB : Nevoid basal cell carcinoma syndrome. Profile of genetic and environmental factors in oncogenesis. J Am Acad Dermatol, 11:98-104, R Yang X, Pfeiffer RM, Goldstein AM : Influence of glutathione-s-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome. J Med Genet, 43:16, Cohen MM Jr : Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. Int J Oral Maxillofac Surg, 28:216-23, Brannon RB : The odontogenic keratocyst. A clinicopathologic study of 312 cases. Part I. Clinical features. Oral Surg Oral Med Oral Pathol, 42:54-72, Nakamura, N, Mitsuyasu T, Mitsuyasu Y, et al. : 171

7 Marsupialization for odontogenic keratocysts: longterm follow-up analysis of the effects and changes in growth characteristics. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 94: , Pogrel MA : Decompression and marsupialization as a treatment for the odontogenic keratocyst. Oral Maxillofac Surg Clin North Am, 15: , Ninomiya, T, Kubota Y, Koji T, et al. : Marsupialization inhibits interleukin-1alpha expression and epithelial cell proliferation in odontogenic keratocysts. J Oral Pathol Med, 31: , Nakamura N, Mitsuyasu T, Mitsuyasu Y, et al. : Marsupialization for odontogenic keratocysts: longterm follow-up analysis of the effects and changes in growth characteristics. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 94:543-53, Thomas M, Tackett JC, Desai P : The incredible odontogenic keratocyst. N Y State Dent J, 58:31-3, Loescher AR, Robinson PP : The effect of surgical medicaments on peripheral nerve function. Br J Oral Maxillofac Surg, 36:327-32, Valentini P, Abensur D, Densari D, et al. : Histological evaluation of Bio-Oss in a 2-stage sinus floor elevation and implantation procedure. A human case report. Clin Oral Implants Res, 9:59-64, Goudy S, Lott D, Burton R, et al. : Secondary alveolar bone grafting: outcomes, revisions, and new applications. Cleft Palate Craniofac J, 46: , Boyne PJ : Application of bone morphogenetic proteins in the treatment of clinical oral and maxillofacial osseous defects. J Bone Joint Surg Am, 83: ,

8 국문초록 기저세포모반증후군 : 증례보고 김지연 오소희 한림대학교성심병원소아치과 기저세포모반증후군은상염색체우성방식으로유전되는질환으로다발성각화낭성치성종양, 대두증및두정골융기, 골격계기형등을보이는질환이다. 다발성각화낭성치성종양, 두정골융기, 양안격리증을가진만 11세환자의하악과상악에서발생한다양한크기의낭종에대한적출술과이종골이식술을시행후교정적견인을시행하였다. 낭종에의한매복영구치를가진성장중인기저세포모반증후군환자에서의보존적인치료를하였기에문헌고찰과더불어보고하고자한다. 주요어 : 기저세포모반증후군, 매복영구치, 각화낭성치성종양 173

J Korean Acad Pediatr Dent 41(1) 2014 ISSN (print) ISSN (online) Nevoid Basal Cell Ca

J Korean Acad Pediatr Dent 41(1) 2014 ISSN (print) ISSN (online) Nevoid Basal Cell Ca ISSN (print) 1226-8496 ISSN (online) 2288-3819 http://dx.doi.org/10.5933/jkapd.2014.41.1.34 Nevoid Basal Cell Carcinoma Syndrome : A Case Report Yoonjung Lee 1, Jaehong Park 2, Sungchul Choi 2, Sooeon