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Gorlin-Goltz syndrome in twins - a case report
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e70
Abstracts
Conclusion: The poor oral health status could be associated with oral cancer development.
FIBROSIS AFTER SURGICALLY ASSISTED RAPID MAXILLARY EXPANSION MIMICKING AN INCISIVE CANAL CYST: CASE REPORT Kaba SCP1, Horikawa FK2, Seo J3, Ruiz MM4, Lemos-Junior CA5, Martins MT3, Shinohara EH6 - 1UNIVERSIDADE DE SAO PAULO - HOSPITAL UNIVERSITARIO, 2HOSPITAL REGIONAL DE OSASCO - ORAL AND MAXILLO FACIAL SURGERY, 3FACULDADE DE ODONTOLOGIA DA UNIVERSIDADE DE SAO PAULO ORAL PATHOLOGY, 4HOSPITAL DA AERONAUTICA ORAL AND MAXILLO FACIAL SURGERY, 5FACULDADE DE ODONTOLOGIA DA UNIVERSIDADE DE SAO PAULO - STOMATHOLOGY, 6HOSPITAL ISRAELITA ALBERT EINSTEIN - ORAL AND MAXILLO FACIAL SURGERY A 20 years old male patient was referred for evaluation of a radiolucent lesion in the maxilla that was visualized in a post op radiography of a surgically assisted rapid maxillary expansion (SARME) done one year previously. He denied any health problems and pain or symptoms in the region. The physical examination was within normal parameters, with oral mucosa and teeth in excellent conditions. Computed Tomography of the maxilla showed a 4mm diameter radiolucent area adjacent to the apical portion of the central incisors. Based on the data obtained a presumptive diagnosis of incisive canal cyst was made. During surgical exploration the content of the incisive canal was removed and sent to histological examination. The final diagnosis was of fibrosis. The patient is under yearly follow up without signs of recurrence.
METASTASIS TO THE ORAL CAVITY: A CASE REPORT Bologna SB1, Teshima THN2, Lascane NAS2, Rocha AC3, Nico MMS, Lourenço SV4 - 1MEDICAL SCHOOL - UNIVERSITY OF SÃO PAULO - DEPARTMENT OF DERMATOLOGY, 2DENTAL SCHOOL - UNIVERSITY OF SÃO PAULO - DEPARTMENT OF ORAL PATHOLOGY, 3HOSPITAL DAS CLÍNICAS - MEDICAL SCHOOL, UNIVERSITY OF SÃO PAULO - MAXILLOFACIAL CLINIC, 4DENTAL SCHOOL - UNIVERSITY OF SÃO PAULO - DEPARTMENT OF GENERAL PATHOLOGY Oral cavity is not a common route for metastatic dissemination; accounting for approximately 1% of all oral malignant neoplasms. The diagnosis of metastatic lesions to the oral cavity is usually challenging to clinicians and pathologists, due to their complexity and rarity. We present a report of 1 case of metastatic neoplasms to the oral cavity, which were detected previously of the diagnosis of the primary tumor. A male, 80 years-old presented an infiltrative mass in the left jaw for one year, with an acute bleeding of the lesion with no other local or systemic symptoms associated. Histopathology and immunohistochemical profile of the biopsied oral lesion were consistent with hepatocellular carcinoma. Three months later, a hepatocellular carcinoma was confirmed as a primary tumor; iliac metastasis was also detected. Misdiagnosis of a metastatic lesion as a benign reactive lesion may delay diagnosis and treatment.
KBG SYNDROME: CASE REPORT AND LITERATURE REVIEW Aquino SN1, Barros LM2, Machado RA2, Martelli DRB3, Swerts MS2, Martelli-Júnior H4 - 1 STATE UNIVER-
October 2012 SITY OF CAMPINAS - DEPARTMENT OF ORAL DIAGNOSIS, 2UNIVERSITY OF ALFENAS - CENTER FOR REHABILITATION OF CRANIOFACIAL ANOMALIES, 3STATE UNIVERSITY OF MONTES CLAROS - STOMATOLOGY CLINIC, 4STATE UNIVERSITY OF MONTES CLAROS; UNIVERSITY OF ALFENAS - STOMATOLOGY CLINIC; CENTER FOR REHABILITATION OF CRANIOFACIAL ANOMALIES KBG syndrome (MIM #148550) is a rare syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, skeletal anomalies and neurological delay. A 3-year old boy was referred for evaluation and dental treatment. The medical history revealed that patient was born at preterm and he has dysgenesis of the corpus callosum with neuromotor delay and seizures. The karyotype was normal as well as others routine tests. The patient has brachycephaly, broad/ round face, low-set ear, low hairline, and mild synophrys. Moreover, we noted polydactyly of the hands and cryptorchidism. Radiographs revealed the presence of thoracic lumbar scoliosis. Intraoral examination showed macrodont maxillary central incisors, with cleft in both incisors. These clinical features are compatible with KBG syndrome. The diagnosis of KBG syndrome is exclusively based on clinical findings, as no genetic test is currently available. In the present case, the dental findings were critical to diagnosis of KBG syndrome.
GORLIN-GOLTZ SYNDROME IN TWINS - A CASE REPORT Borges AR1, Marchionni AMT1, Medrado AP1, Veiga PC1, Reis SRA1 - 1ESCOLA BAHIANA DE MEDICINA E SAÚDE PÚBLICA - MESTRADO EM ESTOMATOLOGIA Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary autosomal-dominant disorder characterized by multiple basal cell carcinomas in young patients, keratocystic odontogenic tumours, calcification of the falx cerebri and skeletal malformations. This syndrome is associated to PTCH1 mutation (patched homolog 1 in Drosophila), a tumor suppressor gene. We report a case of adolescents, twins with Gorlin- Goltz syndrome without affected first degree relatives. In both patients, there is a presence of multiple keratocystic odontogenic tumours, histologically confirmed. None of them have basal cell carcinomas, but both show skeletal anomalies. Marsupialization was performed for all lesions in patients and keeps on monitoring for 1 year and then be removed. It is intended to report these cases with emphasis on the results of histological and genetic mapping of the family.
COMPARATIVE IMMUNOHISTOCHEMICAL STUDY OF SUBSTANCE P, NK-1R AND KI-67 IN AMELOBLASTOMAS AND MALIGNANT ODONTOGENIC TUMORS Lourenço SQC1, Otero D1, Sousa TS2, Faria PAS2, Bravo RAM3, Ruiz-Ávila I4, Gonzáles-Moles MA3 - 1UNIVERSIDADE FEDERAL FLUMINENSE - PATOLOGIA, 2INSTITUTO NACIONAL DE CÂNCER, 3UNIVERSITY OF GRANADA, 4UNIVERSITY OF GRANADA - CLINICAL UNIVERSITY HOSPITAL OF GRANADA Objectives: Compare proliferative activity according to Ki-67 immunostain in ameloblastomas and malignant odontogenic tumors and determine whether substance P (SP) and NK-1 receptor (NK-1R) are related to cell proliferation in these tumors.
e70
Abstracts
Conclusion: The poor oral health status could be associated with oral cancer development.
FIBROSIS AFTER SURGICALLY ASSISTED RAPID MAXILLARY EXPANSION MIMICKING AN INCISIVE CANAL CYST: CASE REPORT Kaba SCP1, Horikawa FK2, Seo J3, Ruiz MM4, Lemos-Junior CA5, Martins MT3, Shinohara EH6 - 1UNIVERSIDADE DE SAO PAULO - HOSPITAL UNIVERSITARIO, 2HOSPITAL REGIONAL DE OSASCO - ORAL AND MAXILLO FACIAL SURGERY, 3FACULDADE DE ODONTOLOGIA DA UNIVERSIDADE DE SAO PAULO ORAL PATHOLOGY, 4HOSPITAL DA AERONAUTICA ORAL AND MAXILLO FACIAL SURGERY, 5FACULDADE DE ODONTOLOGIA DA UNIVERSIDADE DE SAO PAULO - STOMATHOLOGY, 6HOSPITAL ISRAELITA ALBERT EINSTEIN - ORAL AND MAXILLO FACIAL SURGERY A 20 years old male patient was referred for evaluation of a radiolucent lesion in the maxilla that was visualized in a post op radiography of a surgically assisted rapid maxillary expansion (SARME) done one year previously. He denied any health problems and pain or symptoms in the region. The physical examination was within normal parameters, with oral mucosa and teeth in excellent conditions. Computed Tomography of the maxilla showed a 4mm diameter radiolucent area adjacent to the apical portion of the central incisors. Based on the data obtained a presumptive diagnosis of incisive canal cyst was made. During surgical exploration the content of the incisive canal was removed and sent to histological examination. The final diagnosis was of fibrosis. The patient is under yearly follow up without signs of recurrence.
METASTASIS TO THE ORAL CAVITY: A CASE REPORT Bologna SB1, Teshima THN2, Lascane NAS2, Rocha AC3, Nico MMS, Lourenço SV4 - 1MEDICAL SCHOOL - UNIVERSITY OF SÃO PAULO - DEPARTMENT OF DERMATOLOGY, 2DENTAL SCHOOL - UNIVERSITY OF SÃO PAULO - DEPARTMENT OF ORAL PATHOLOGY, 3HOSPITAL DAS CLÍNICAS - MEDICAL SCHOOL, UNIVERSITY OF SÃO PAULO - MAXILLOFACIAL CLINIC, 4DENTAL SCHOOL - UNIVERSITY OF SÃO PAULO - DEPARTMENT OF GENERAL PATHOLOGY Oral cavity is not a common route for metastatic dissemination; accounting for approximately 1% of all oral malignant neoplasms. The diagnosis of metastatic lesions to the oral cavity is usually challenging to clinicians and pathologists, due to their complexity and rarity. We present a report of 1 case of metastatic neoplasms to the oral cavity, which were detected previously of the diagnosis of the primary tumor. A male, 80 years-old presented an infiltrative mass in the left jaw for one year, with an acute bleeding of the lesion with no other local or systemic symptoms associated. Histopathology and immunohistochemical profile of the biopsied oral lesion were consistent with hepatocellular carcinoma. Three months later, a hepatocellular carcinoma was confirmed as a primary tumor; iliac metastasis was also detected. Misdiagnosis of a metastatic lesion as a benign reactive lesion may delay diagnosis and treatment.
KBG SYNDROME: CASE REPORT AND LITERATURE REVIEW Aquino SN1, Barros LM2, Machado RA2, Martelli DRB3, Swerts MS2, Martelli-Júnior H4 - 1 STATE UNIVER-
October 2012 SITY OF CAMPINAS - DEPARTMENT OF ORAL DIAGNOSIS, 2UNIVERSITY OF ALFENAS - CENTER FOR REHABILITATION OF CRANIOFACIAL ANOMALIES, 3STATE UNIVERSITY OF MONTES CLAROS - STOMATOLOGY CLINIC, 4STATE UNIVERSITY OF MONTES CLAROS; UNIVERSITY OF ALFENAS - STOMATOLOGY CLINIC; CENTER FOR REHABILITATION OF CRANIOFACIAL ANOMALIES KBG syndrome (MIM #148550) is a rare syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, skeletal anomalies and neurological delay. A 3-year old boy was referred for evaluation and dental treatment. The medical history revealed that patient was born at preterm and he has dysgenesis of the corpus callosum with neuromotor delay and seizures. The karyotype was normal as well as others routine tests. The patient has brachycephaly, broad/ round face, low-set ear, low hairline, and mild synophrys. Moreover, we noted polydactyly of the hands and cryptorchidism. Radiographs revealed the presence of thoracic lumbar scoliosis. Intraoral examination showed macrodont maxillary central incisors, with cleft in both incisors. These clinical features are compatible with KBG syndrome. The diagnosis of KBG syndrome is exclusively based on clinical findings, as no genetic test is currently available. In the present case, the dental findings were critical to diagnosis of KBG syndrome.
GORLIN-GOLTZ SYNDROME IN TWINS - A CASE REPORT Borges AR1, Marchionni AMT1, Medrado AP1, Veiga PC1, Reis SRA1 - 1ESCOLA BAHIANA DE MEDICINA E SAÚDE PÚBLICA - MESTRADO EM ESTOMATOLOGIA Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary autosomal-dominant disorder characterized by multiple basal cell carcinomas in young patients, keratocystic odontogenic tumours, calcification of the falx cerebri and skeletal malformations. This syndrome is associated to PTCH1 mutation (patched homolog 1 in Drosophila), a tumor suppressor gene. We report a case of adolescents, twins with Gorlin- Goltz syndrome without affected first degree relatives. In both patients, there is a presence of multiple keratocystic odontogenic tumours, histologically confirmed. None of them have basal cell carcinomas, but both show skeletal anomalies. Marsupialization was performed for all lesions in patients and keeps on monitoring for 1 year and then be removed. It is intended to report these cases with emphasis on the results of histological and genetic mapping of the family.
COMPARATIVE IMMUNOHISTOCHEMICAL STUDY OF SUBSTANCE P, NK-1R AND KI-67 IN AMELOBLASTOMAS AND MALIGNANT ODONTOGENIC TUMORS Lourenço SQC1, Otero D1, Sousa TS2, Faria PAS2, Bravo RAM3, Ruiz-Ávila I4, Gonzáles-Moles MA3 - 1UNIVERSIDADE FEDERAL FLUMINENSE - PATOLOGIA, 2INSTITUTO NACIONAL DE CÂNCER, 3UNIVERSITY OF GRANADA, 4UNIVERSITY OF GRANADA - CLINICAL UNIVERSITY HOSPITAL OF GRANADA Objectives: Compare proliferative activity according to Ki-67 immunostain in ameloblastomas and malignant odontogenic tumors and determine whether substance P (SP) and NK-1 receptor (NK-1R) are related to cell proliferation in these tumors.