• 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.

• Tuberculosis and Respiratory Diseases
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• 제48권1호
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• pp.45-53
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• 2000

연구배경: 단순흉부촬영에서 늑골의 변이에 익숙하지 못한 경우 흉곽 또는 폐 병변으로 오인하게 되는 경우가 있다. 단순흉부촬영에서 늑골의 변이에 대한 외국의 문헌 보고가 소수 있으며 국내에서도 임 등에 의한 보고외에는 문헌 보고가 거의 없는 실정이다. 이에 저자들은 한국 정상 성인에서 발견되는 여러가지 늑골 변이의 종류와 형태 및 그 빈도를 알아보고자 하였다. 방 법: 1996년 1월부터 1998년 9월까지 신체검진을 목적으로 연속적으로 본원을 방문하여 단순흉부촬영을 시행한 성인 5,000명을 대상으로 하였다. 남녀가 각각 2,827명과 2,173명(1.3:1)이었고 연령은 평균 34.6(19-65세)였다. 전 예에서 후전면촬영 사진상 늑골변이의 종류, 위치 및 형태를 보았고 각 변이의 빈도를 계산하였다. 결 과: 총 76명(1.52%)에서 88예의 늑골의 변이가 관찰되었고 남성이 63명(2.23%), 여성이 13명(0.6%)이었다. 88예의 늑골 변이중 이열늑골(bifid rib, n=35)이 가장 흔히 관찰되었고, 늑골의 형성 부전(hypoplasia, n=22), 늑골단의 넓어짐(flaring, n=18), 늑골간의 가교형성(bridging of rib, n=7), 경륵(cervical rib, n=3), 늑골 융합(fusion, n=3) 순으로 나타났다. 이열 늑골은 우측 제 4늑골에서 가장 흔했으며(12/35, 34.3%), 제 5늑골(6/35, 17.1%) 과 우측 제 3늑골(6/35, 17.1%)의 순으로 관찰되었다. 늑골의 형성부전은 제 1늑골에서 가장 흔했다. 늑골단의 넓어짐은 제 4늑골에서(8/18, 44.4%) 흔히 관찰되었고 늑골간의 가교 형성은 제 1-2늑골간에서 흔했다(3/7, 42.9%). 결 론: 성인에서 늑골의 변이는 약 1.52%의 반도를 보였다. 이열 늑골이 가장 흔했고 늑골의 형성 부전, 늑골단의 넓어짐, 늑골간의 가교 형성, 경륵, 늑골융합 등의 순서로 나타났다.

• Journal of Korean Dental Science
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• 제4권1호
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• pp.33-37
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• 2011

Gorlin-Goltz syndrome is an autosomal dominant disorder with a high degree of penetrance. It is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and plantar pits and ectopic calcifications of falx cerebri. The presence of two major and one minor criteria or one major and three minor criteria are necessary to establish a diagnosis. Early diagnosis and treatment of Gorlin-Goltz syndrome, as well as family screening and genetic counseling are essential as it may be associated in 10% of patients with aggressive basal cell carcinoma and malignant neoplasias. We report here a patient with Gorlin-Goltz syndrome.

• 대한수의학회지
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• 제36권2호
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• pp.289-296
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• 1996

A case of schistosomus reflexes in Korean native female calf was observed macroscopically and radiographically. The results were summarized as follows. 1. The abdominal visceral organs were exposed. 2. The vertebral column bent laterally to the left, and the sacrum approached to the cranium by reflected caudal lumber vertebrae, presenting S-shaped lateral twisting of the vertebrae. 3. The right ribs reflected laterally and dorso-cranially from the 7th rib to 13th rib. The left ribs bent caudally from 8th rib to 13th rib. 4. The length of rudimentary 6th right rib was one half of normal size and the 7th right rib was one third. 5. The sternum was bifid split from the fourth sternebra through the xyphoid cartilage. 6. The diaphragm was intact and thoracic cavity was reduced in size. The lung and heart severely deformed in shape and size. 7. The liver markedly deformed in shape and thickness. 8. The pelvic cavity was reduced in size by compression laterally to the left. 9. The uterus horn, ovary, urinary bladder, and urethra were severely deformed in the shape and position.

• 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.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제36권1호
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• pp.7-12
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• 2014

Nevoid basal cell carcinoma syndrome (NBCCS) is inherited as an autosomal dominant trait with variable conditions, including multiple basal cell carcinoma, numerous keratocystic odontogenic tumors (KOTs) in the jaws, ectopic calcification of the falx cerebri, bifid ribs, macrocephaly, kyphoscoliosis, cleft palate, frontal and temporal bossing, mild ocular hypertelorism, mild mandibular prognathism, vertebral fusion, and so on. A 16-year-old boy visited the Dong-A University Medical Center, requiring diagnosis and treatment of multiple cystic lesions. He presented with many conditions related to NBCCS, including multiple KOTs, bifid rib, cleft lip, frontal bossing, mild ocular hypertelorism, and mild mandibular prognathism. No characteristic cutaneous manifestations (nevoid basal cell carcinoma) were observed in this patient. We report on a case of multiple KOTs associated with NBCCS with a review of the literature.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제36권6호
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• pp.292-297
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• 2014

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal genetic disease caused by a PTCH mutation. The disease is characterized by multiple basal cell carcinomas of the skin, multiple keratocystic odontogenic tumors (KCOTs) in the jaw, palmar and/or plantar pits, bifid ribs, ectopic calcification of the falx cerebri, and skeletal abnormalities. Early diagnosis is difficult in many cases because there may be a number of systemic symptoms. The purpose of this study is to report the case of a 12-year-old girl who was hospitalized with multiple KCOTs that occurred in the upper and lower jaws. Through characteristic clinical symptoms and radiologic findings, she was finally diagnosed as having NBCCS. This study also aims to organize the symptoms often observed in Korea using previously published case reports to provide useful information for the early diagnosis of NBCCS.

• 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.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제31권5호
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• pp.429-434
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• 2009

Basal cell nevus syndrome is a rare inherited disorder characterized by mulitple cutaneous basal cell carcinoma, pits of the palms and soles, cysts of the jaws, skeletal abnormalities and ectopic calcifications. 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 a case of a 9-year-old boy with the various manifestation of basal cell nevus syndrome, which are multiple odontogenic keratocysts, pits of the soles, bifid ribs, ectopic calcification, macrocephaly, and hypertelorism, etc. Total five odontogenic keratocysts were found. For the reduction of the size of the odon-togenic keratocysts, following preoperative marsupialization, there were surgically enucleated. And the impacted upper right lateral incisor and canine are tracted orthodontically.