대한소아치과학회지 35(4) 2008 기저세포모반증후군환아의증례보고 허수경 최남기 김선미 양규호 전남대학교치의학전문대학원소아치과학교실및치의학연구소및 2 단계 BK21 국문초록 기저세포모반증후군은상염색체우성으로유전하며외배엽성과중배엽성기관과장기에이환된다. 기저세포모반증후군

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1 대한소아치과학회지 35(4) 2008 기저세포모반증후군환아의증례보고 허수경 최남기 김선미 양규호 전남대학교치의학전문대학원소아치과학교실및치의학연구소및 2 단계 BK21 국문초록 기저세포모반증후군은상염색체우성으로유전하며외배엽성과중배엽성기관과장기에이환된다. 기저세포모반증후군은특징적으로피부이상, 치아와골격이상, 안과적장애, 신경장애, 생식계이상등이나타난다. 악골의병소는보통여러부위를포함하는치성각화낭종이며상, 하악에모두나타난다. 다발성악골낭종은워낙높은재발율을가진각화성낭종이기때문에완전적출을위해적극적인치료를해야한다. 제거후는재발여부를확인하기위해신중한주기적재검진이필요하다. 본증례는다발성치성낭종의치료를위해내원한환자가기저세포모반증후군으로진단되어양호한결과를얻었기에이를보고하는바이다. 이환자는전두골돌출, 양안격리증, 정신지체및상, 하악에 2개의치성각화낭종을가지고있었다. 낭종은조대술로치료되었고현재 obturator와공간유지장치로유지하고있으며치아맹출여부를관찰하고있다. 주요어 : 기저세포모반증후군, 다발성악골낭종, 조대술 Ⅰ. 서론기저세포모반증후군은피부, 치아-골격계, 신경계등외배엽과중배엽에서발생하는장기와이와관련된기관에비정상을보이는증후군이며상염색체우성으로유전된다 1). 1894년 Jarish 2) 가기저세포암종, 척추측만증, 학습장애등을보이는증후군으로처음보고하였으며, Howell과 Caro 3) 는 1959년에처음으로다른피부질환과기저세포모반와의관련성을보고하였다. Gorlin과 Goltz 4) 는이증후군의 3대주요증상으로악골낭종, 골격계이상, 다발성기저세포모반을보고하였다. 유병율은 60,000명당 1명으로발생한다고알려져있고성별간의우세는보이지않는다 5,6). 원인은밝혀지지않았으나염색체 9번 (9q22.3-q31) 과 PTCH 유전자의변이로인해선천적이상이나타난다는보고가있었다 7,8). 기저세포모반증후군은악골의다발성낭종, 피부의기저세포암또는기저세포모반, 늑골및척추이상과두개내석회화등을주요특징으로하며전두골및측두정골의돌출, 양안격리증, 구순열, 구개열도종종나타난다 9). 적어도두가지이상의증상이있을경우기저세포모반증후군으로진단할수있다 1). Evans 등 10) 에의한진단기준은 Table 1에요약되어있다. 피부병소는작고납작한살색혹은갈색반점으로신체어느부위에나발생할수있으나주로안면, 목, 몸통에서뚜렷하게나타난다. 악골낭종은대개다발성치성각화낭으로어린환자에서미맹출치아와관련하여나타나기도한다 11). 따라서미맹출치아를주소로내원한환자들의방사선사진검사상우연히발견되기도한다. 본증례는다발성치성낭종의치료를위해내원한환자에서임상적, 방사선학적검사를통해기저세포모반증후군으로진단되어치료한결과양호한결과를얻었기에이를보고하는바이다. Ⅱ. 증례 10세 6개월의여아가아래턱에여러개의물혹이있다는주소로내원하였다. 의과적병력은선천적뇌수두증 (Hydrocephalus) 과간질을가지고있었다. 임상검사상전두골돌출 (frontal bossing) 이있었고, 눈부위에서는양안격리증과미약한안검하수증을보였다 (Fig. 1A). 또한피부에나타나는기저세포모반이나기저세포암종은발견되지않았다. 구강내소견으로는입이잘다물어지지않았고 (Fig. 1B), 높은 교신저자 : 최남기광주광역시동구학동 8 번지 / 전남대학교병원소아치과학교실 / / hellopedo@hanmail.net 원고접수일 : 2008 년 3 월 20 일 / 원고최종수정일 : 2008 년 7 월 11 일 / 원고채택일 : 2008 년 7 월 24 일 725

Bifid, fused or markedly splayed ribs 5. First degree relative with NBCCS Minor criteria: Any one of the following features: 1. Proven macrocephaly, after adjustment for height 2.

2 J Korean Acad Pediatr Dent 35(4) 2008 Table 1. The diagnostic criteria of Nevoid Basal Cell Carcinoma Syndrome by Evans et al 10). Major criteria: 1. More than two basal cell carcinomas (BCC) or one BCC under the age of 20 years 2. Histologically-proven odontogenic keratocysts of the jaw 3. Three or more cutaneous palmar or plantar pits 4. Bifid, fused or markedly splayed ribs 5. First degree relative with NBCCS Minor criteria: Any one of the following features: 1. Proven macrocephaly, after adjustment for height 2. One of several orofacial congenital malformations: cleft lip or palate, frontal bossing, coarse face, moderate or severe hypertelorism 3. Other skeletal abnormalities: Sprengel deformity, marked pectus deformity, marked syndactyly of the digits 4. Radiological abnormalities: Bridging of the sella turcica, vertebral anomalies such as hemivertebrae, fusion or elonga tion of the vertebral bodies, modelling defects of the hands and feet, or flame shaped lucencies or the hands or feet 5. Ovarian fibroma 6. Medulloblastoma * The diagnosis of NBCCS requires the presence of two major, or one major and two minor criteria. 구개, 치간공극그리고전치부반대교합을보였다 (Fig. 2A, 2B). MRI 소견상대뇌에서이소성석회화가관찰되었다 (Fig. 3). 흉부 X-ray 검사상늑골이상은보이지않았고, 수완부, 두부방사선사진상특별한골격적이상은없었다 (Fig. 4-6). 파노라마방사선사진과 Dental CT 소견상상악좌측견치와제2소구치, 하악좌측제1소구치를포함하는낭종이관찰되었고하악좌, 우측제2소구치는선천성결손이있었다 (Fig. 7, 8). 조직검사소견상얇은벽을갖고, 딸낭 (Daughter cyst) 을가지지않으며 (Fig. 9), 고배율소견에서는내부에치즈양물질이관찰되는치성각화낭으로진단되었다 (Fig. 10). 이를바탕으로 Evans 등 10) 의기준에따르면 2개의대기준 (major criteria) 과 1개소기준 (minor criteria) 을가지므로기저세포모반증후군으로진단할수있었다. 치료는낭종이있는부위는조대술을시행하였고해당부위에 obturator를장착해주었다. 그리고골형성이일어난만큼내원시마다 obturator를선택적으로삭제하였다. 하악좌측제1 소구치는구강내로맹출하였으며, 상악좌측견치는맹출하지않았다. 현재까지새로운악골낭종은발생하지않았으며악골낭종 의재발역시보이지않고있다 (Fig. 11). 현재하악에는선천적으로결손된제2소구치보철을위한공간을위해공간유지장치를장착중이며, 수술후미맹출되었던하악좌측제1소구치는맹출하였다 (Fig. 12). 낭종이있었던부위에대한주기적인검사및관찰을시행하고있으며미맹출한상악좌측견치에대해서는교정적정출술을동반한교정치료등을계획하고있다. 그리고환아와가족구성원모두유전자검사예정이다. Ⅲ. 총괄및고찰기저세포모반증후군 (nevoid basal cell carcinoma syndrome) 은보통 5세이후에서 30세이전, 즉어린나이에시작되며 5가지중요한증상을보인다 ; 피부이상, 치아-골격계이상, 안과계이상, 신경계이상, 생식계이상 1,9). 피부병소는다발성기저세포모반종, 손발의함요 (palmar or plantar pits), 낭종과섬유종, 신경섬유종등이며 6,12), 초기에나타나는피부병소인기저세포모반은어린나이에발생할수있고, 사춘기이후에는공격적이고국소적으로침습적인특성을보인다 10). 최근에는자외선조사가 PTCH의변이와기저세포모반또는기저세포암종의발생을가속화시킨다는보고가있었다 13). Fig. 1A. Extraoral photograph : Hypertelorism Fig. 1B. Extraoral photograph : Mouth opening. 726

3 대한소아치과학회지 35(4) 2008 Fig. 2A. Intraoral photograph : Anterior cross-bite. Fig. 2B. Intraoral photograph : High palatal vault and interdental space. Fig. 3. Brain MRI: Ectopic calcification in brain. Fig. 4. Chest PA radiograph Fig. 5. Hand-wrist radiograph. Fig. 6. Waters view radiograph. Fig. 7. Initial panoramic view. Fig. 8. Initial Dental CT view. Fig. 9. Histologic finding ( 10) Fig. 10. Histologic finding ( 100). 727

4 J Korean Acad Pediatr Dent 35(4) 2008 골격이상은이열늑골과늑골무발생, 골유합증과같은늑골이상이가장흔하게나타나며척추후측만증, 다지증, 짧은중수골과미약한하악전돌증도나타난다 1,13). 그리고양안격리증, 대뇌겸과경막의석회화와약간의정신지체와드물게간질등도보인다 1,9,14,15). Muzio 등 16) 은피부에발생하는다발성기저세포암은예후와관련되며, 대개 30세이전에악골의낭종보다늦게발현되어나타나므로이증후군을조기진단하는데치과의사들의역할이중요하다고하였다. 치성각화낭은일반적으로얇은결체조직벽과각화된 4~8개의세포층두께의얇은편평상피이장을갖고, 결체조직벽내에위성낭이존재하기도한다. 이러한조직학적특징때문에치성각화낭은제거후에도높은재발율을보인다 1,11). 기저세포모반증후군과관련된치성각화낭은그렇지않은치성각화낭에비해더어린나이에발생하는경향이있고 16), 더높은재발율을보인다 17,18). 이는다발성으로나타나고조직소견상상피세포크기가더작으며위성낭이더흔하여수술후에도잔존할가능성이높기때문이라고생각할수있다 1,9,10). 기저세포모반증후군의치료목표는조기진단, 유전적상담, 여러과와의협진과주기적인추적검사를통해보다보존적인처치가가능하고악골낭종의재발율을줄일수있게하는것이다. 특히다발성악골낭종은워낙높은재발율을가지므로완전적출을위해적극적인치료가필요하다 1). 일반적으로낭의치료방법으로는적출술, 조대술, 감압술등의방법이있으나낭의크기, 발생부위, 인접치아및구조물과의관계, 환자의나이나전신건강상태등을고려하여치료방법을결정해야한다 19). 조대술은어린이에서낭종이발생하여악골에서발육중인영구치의정상적인맹출이방해된경우낭종내압력을감소시키는통로를형성하여낭종의크기를점차축소시켜소멸시키는술식으로, 낭종의처치와영구치의맹출을유도하기위하여추천되는방법이다 20). 발치와가폐쇄될가능성이높아이를예방하기위해서 plugger를첨가한 obturator가종종사용된다 21). 기저세포모반증후군과관련된치성낭종의치료또한이와유사하나, 향후낭종의재발여부를관찰해야한다. 따라서기저세포모반증후군환자는 8세에서 40대까지는매년방사선사진 ( 특히파노마라방사선사진 ) 을채득하여낭종의재발여부를확인할것을추천하고있다 22). 기저세포모반증후군의예후는나쁘지않으나기저세포암종이뇌와같은중요장기에침습될경우사망할수있다 1). 기저세포모반은사춘기이후에침습적인변화 23) 가나타나므로이시기부터는정기적으로피부과상담및치료가필요하리라생각된다. 악골낭종은재발할가능성이높고다른부위에새로운낭종이발생하거나, 드물게악성변화할가능성이있으므로주기적인방사선촬영을통한관찰이중요하다하겠다 1,24). 이증후군은환자에게서명백하게나타나는특징에의존하기때문에조기진단은보다보존적인처치를할수있게한다 24). 또한가족력을띄므로모든가족구성원들의유전적인상담이필요하리라생각되고, 주기적인관찰또한필요할것이다 9). Ⅳ. 요약다발성치성낭종의치료를위해내원한환아의진단과치료후다음과같은결과를얻었다. 1. 악골내다발성치성각화낭종이존재하고, 전두골돌출, 대뇌의이소성석회화및양안격리증등의임상적소견을통해기저세포모반증후군으로진단되었다. 2. 악골낭종은조대술을이용하여치료하였으며, 낭종의재발및새로운낭종의발생여부를관찰하기위해주기적인관리가필요하다. 참고문헌 1. Neville BW, Damm DD, Allen CM, et al. : Oral & Maxillofacial Pathology. 2nd ed, Philadelphia, W. B. Saunders, , Jarish W : Zur lehre von den autgeschwulsten. Archiv Jur Dermatologic und Syphilogic, 28: , Howell JB, Caro MR : The basal cell nevus: Its relationship to multiple cutaneous cancers and associated anomalies fo development. Arch Dermatol, 79:67-74, Gorlin KJ, Goltz RW : Multiple nevoid basal cell epithelioma, jaw cysts and bifid rib: A syndrome. N Engl J Med, 262:908-12, Gorlin RJ : Nevoid basal cell carcinoma (Gorlin) syndrome : unanswered issues. J Lab Clin Med, 134: , Reisner KR, Riva RD, Cobb RJ, et al. : Treating nevoid basal cell carcinoma syndrome. JADA, 125: , Fardon PA, Del Maestro RG, Evans DG, et al. : Location of gene for Gorlin syndrome. Lancet, 339: , Cohen MM Jr : Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. Int J of Oral Maxillofac Surg, 28: , Bakaeen G, Rajab LD, Sawair FA, et al. : Nevoid basal cell carcinoma syndrome : a review of the literature and a report of a case. Int J Paediatr Dent, 14: , Evans DG, Ladusans EJ, Rimmer S, et al. : Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet, 30:460-4, 대한구강악안면방사선학교수협의회 : 구강악안면방사선학. 나래출판사, 서울, 352-3,

5 대한소아치과학회지 35(4) Clendrnning WE, Block JB, Radde IC, et al. : Basal cell nevus syndrome. Arch Derma, 90:3814, Hamosh A, Scott AF, Amberger J, et al. : Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Research, 30: 52?55, Hogan RE, Tress B, Gonzales MF, et al. : Epilepsy in the nevoid basal-cell carcinoma syndrome (Gorlin syndrome): report of a case due to a focal neuronal heterotopia. Neurology, 46: , Tumer CERN, Balci S, Atac A : Two male patients with nevoid basal cell carcinoma syndrome from Turkey. Turkish Journal of Pediatrics, 43: , Lo Muzio L, Nocini P, Bucci P. et al. : Early diagnosis of nevoid basal cell carcinoma syndrome. J Am Dent Assoc, 130: , Auluck A, Suhas S, Pai KM : Multiple odontogenic keratocysts: report of a case. J Can Dent Assoc, 72:651-6, Dominguez FV, Keszler A : Comparative study of keratocysts, associated and non-associated with nevoid basal cell carcinoma syndrome. J Oral Pathol, 17:39-42, 박성연, 남동우, 김영진등 : 함치성낭의임상적및방사선적특성. 대한소아치과학회지, 31: , 박창현, 정태성, 김신 : 낭종에의해변위된영구치의맹출유도. 대한소아치과학회지, 28:67-71, Taicher S, Steinberg H, Lewin-Epstein J, et al. : Acrylic resin stents for marsupialization. J Prosthet Dent, 54:818-9, Gorlin RJ : Nevoid basal cell carcinoma syndrome. Dermatol Cln, 13:113-25, Taicher S, Shteyer A : The basal cell nevus syndrome associated with cleft lip and cleft palate : report of case. J Oral Surg, 36: , Manfredi M, Vescovi P, Bonanini M, et al. : Nevoid basal cell carcinoma syndrome : a review of the literature. Int J Oral Maxillofac Surg, 33:117-24,

6 J Korean Acad Pediatr Dent 35(4) 2008 Abstract NEVOID BASAL CELL CARCINOMA SYNDROME : A REPORT OF CASE Su-Kyung Heo, Nam-Ki Choi, Seon-Mi Kim, Kyu-Ho Yang Department of Pediatric Dentistry, School of Dentistry, Chonnam National University and Dental Research Institute and second stage of BK 2 Nevoid basal cell carcinoma syndrome is an ecto-mesodermal polydysplasia with numerous manifestations that affect multiple organs. The syndrome is an autosomal dominant inherited, with a high penetration and visible expression. The syndrome is characterized by a series of associated anomalies such as cutaneous, dentofacial, skeletal, ophthalmologic, neurological, and genital anomalies. Generally, the jaw cysts are multiple odontogenic keratocysts, affecting any area of maxilla and mandible. Multiple odontogenic keratocysts of this syndrome are more recurrent than the keratocysts of non-syndrome, thus they are treated aggressively for complete removal. We report a case of multiple jaw cysts associated with nevoid basal cell carcinoma syndrome. In clinical and radiological examinations, frontal bossing, hypertelorism, mild mental retardation and two odontogenic keratocysts in both the maxilla and mandible were observed. Two cysts were treated by marsupialization. For the management of eruption of unerupted teeth, periodic recall check and orthodontic treatment are required. Key words : Nevoid basal cell carcinoma syndrome,multiple odontogenic keratocysts, Marsupialization 730

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