• 대한두개안면성형외과학회지
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• 제22권2호
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• pp.122-125
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• 2021

Basal cell nevus syndrome (BCNS), also known as basal cell carcinoma nevus syndrome, Gorlin syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma, is a rare autosomal dominant disorder with a prevalence of approximately 1/60,000. A lower prevalence rate of 1/13,939,393 has also been reported in Korea. We report the case of a 40-year-old male patient with multiple black pigmented macules on the face that first appeared when he was a teenager. His clinical features of jaw cysts, bifid ribs, and calcification of the falx cerebri were fitting within the criteria for the diagnosis of BCNS. We excised all suspected macules and sent permanent biopsy. Most of the histological examinations of the biopsy samples taken during surgical excision of the face masses showed basal cell carcinomas. Ten months after the surgery, the patient has remained free from symptoms and is undergoing follow-up observation.

• Imaging Science in Dentistry
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• 제33권3호
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• pp.195-198
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• 2003

We present two cases of multiple jaw cysts not associated with basal cell nevus syndrome. Case 1: a nine year-old boy visited CNU Hospital for orthodontic treatment and his radiographs showed cystic lesions surrounding the crowns of teeth #13 and #17 respectively, which were diagnosed as dentigerous cysts. Subsequently, two more cysts were found on his follow-up radiographs in 12 and 15 months. The two cysts were determined to be odontogenic keratocysts. The boy had no skeletal abnormalities and no skin lesions associated with basal cell nevus syndrome. Case 2: a fifty-eight year old man had three impacted third molars with pericoronal radiolucencies, which were diagnosed as dentigerous cysts. He had no additional abnormalities associated with basal cell nevus syndrome. Multiple jaw cysts can occur at any age, and periodic radiographic surveillance may be needed for any cases of impacted tooth.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제32권1호
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• pp.81-85
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• 2010

Multiple jaw cysts are one of the most constant features of the basal cell nevus syndrome. Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressiveness. This syndrome comprises a number of abnormalities such as multiple nevoid basal cell carcinomas of the skin, skeletal abnormalities as bifid rib and fusion of vertebrae, central nervous system abnormalities as mental retardation, eye abnormalities with multiple jaw cysts. The odontogenic keratocysts in patients with this syndrome are often associated with the crowns of unerupted teeth and huge size; on radiographs they may mimic dentigerous cysts. The most important feature of the cyst is its extraordinary recurrence rate. Since recurrence may be long delayed in this lesion, follow-up of any case of odontogenic keratocyst with roentgenograms and clinical examination of basal cell carcinoma are essential for at least five years after surgery. We report the result of 7-year follow up after cyst enucleation associated with basal cell nevus syndrome with the literature of review.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제28권2호
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• pp.136-140
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• 2002

Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressivity. This syndrome comprises a number of abnormalities such as multiple nevoid basal cell carcinomas of the skin, skeletal abnormalities as bifid rib and fusion of vertebrae, central nervous system abnormalities as mental retardation, eye abnormalities, and multiple odontogenic kerato cysts. In 1960, Gorlin and Goltz first described the features of this disease as constituting a true syndrome; since then, it has been realized that it is much more complex and encompassing than initially thought. This patient has many symtoms of basal cell nevus syndrome. - we has known multiple jaw cysts through panorama and facial computed tomography. He has hyperchromatism on basal cell through skin biopsy. In ophthalmologic consult, he has blindness on right. On his past medical history, amputation was done on his toes for polyductalism. - So we report with literature reviews

• Archives of Plastic Surgery
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• 제37권6호
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• pp.819-822
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• 2010

Purpose: Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder. It is characterized by complex neoplastic syndrome with multisystemic manifestations, involving six major features. This article presents a rare genetic disorder and usage of the author's methods for odontogenic keratocyst, developed in the maxillary sinus. Methods: A 67-year-old man was presented with large calcified maxillary mass and multisystemic manifestations and findings that matched with basal cell nevus syndrome. The calcified maxillary mass was removed via the versatile maxillary window and maxillary bone segment was repositioned. Results: Histopathologic findings revealed that maxillary and mandibular lesions were odontogenic keratocysts and the skin lesions were basal cell carcinoma. Conclusion: Basal cell nevus syndrome is a rare genetic disease that requires surveillance and care for basal cell carcinoma and multisystemic problems. The author's method was satisfactory for maxillary odontogenic keratocyst in the aspect of the approach and reconstruction.

• Clinical and Experimental Pediatrics
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• 제50권8호
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• pp.789-793
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• 2007

기저세포 모반 증후군은 피부의 기저세포 암종, 악골의 치성 각화낭종, 손, 발바닥의 소와, 이소성 석회화, 기저세포 모반 증후군의 가족력 등을 주요 특징으로 하는 상염색체 우성 유전 질환이다. 저자들은 갑자기 커지는 좌측 안면부 종물을 주소로 내원한 9세 남자 환아에서 외관상 특징적인 소견 관찰되고 분자유전학적 검사에서 PTCH 유전자의 결손 확인되어 기저세포 모반 증후군 확진된 1례를 경험하였기에 보고하는 바이다.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제26권3호
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• pp.305-309
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• 2000

The basal cell nevus syndrome is a well recognized entity, the major symptoms of which are basal cell nevi, multiple jaw cysts, skeletal anomalies, and ectopic calcification. The syndrome follows a hereditary pattern, which is characterized by a highly penetrant, autosomal dominant gene with multiple and variable effects. The patient often has a characteristic face, with frontal and temporoparietal bossing, which results in an increased cranial circumference. The eyes may appear widely separated, and 40 percent of patients have true ocular hypertelorism. Jaw cysts are one of the most constant features of the syndrome and are present in at least 75 percent of the patients. The cysts are odontogenic keratocysts and frequently multiple. Radiographically, the cysts in patients with basal cell nevus syndrome do not differ significantly from isolated keratocysts. The cysts in patients with this syndrome are often associated with the crowns of unerupted teeth; on radiographs they may mimic dentigerous cysts. We report a case of multiple odontogenic keratocysts associated with basal cell nevus syndrome with the literature of review.

• 치과방사선
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• 제18권1호
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• pp.5-12
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• 1988

Several cases of jaw cyst-basal cell nevus-bifid rib syndrome are presented. This syndrome consists principally of multiple jaw cysts, basal cell nevi, and bifid ribs but no one component is present in all patients. The purpose of this paper is to review the multiple characteristics of this syndrome and present three cases in a family and additional 4 cases. The many malformations associated with the syndrome have variable expressivity. In the cases, multiple jaw cysts, palmar and plantar pittings, bridging of sella, temporoparietal bossing, hypertelorism, cleft palate, and dystopia canthorum have been observed.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제30권2호
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• pp.172-177
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• 2008

Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is a hereditary condition transmitted as an autosomal dominant trait that exhibits high penetrance and variable expressivity. It is an ecto-mesodermal polydysplasia with numerous manifestations that affect multiple organs. Odontogenic keratocysts, palmar and plantar pits, and hypertelorism are the most frequently observed anomalies. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus early allowing an early diagnosis of these patients. We report two cases of multiple odontogenic keratocysts associated with basal cell nevus syndrome.

• Imaging Science in Dentistry
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• 제38권2호
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• pp.109-115
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• 2008

The basal cell nevus syndrome (BCNS) is an autosomal dominant disorder, characterized by basal cell carcinomas, odontogenic keratocysts and skeletal abnormalities. We experienced two cases that represented several characteristics of BCNS. Case 1: a thirty three year-old man visited CSU hospital. His radiographs showed four cystic lesions at both maxillary sinus and both mandibular angle, with bifid rib and ectopic calcification of falx cerebri. After marsupialization and enucleation, recurrent and newly developing tendency were found on his follow-up radiographs. Case 2: a seventeen year-old man had four large cystic lesions which were diagnosed as odontogenic keratocysts. He had craniofacial anomalies which included ectopic calcification and frontal bossing.