• 대한두경부종양학회지
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• 제24권2호
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• pp.194-196
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• 2008

Dermoid cysts are developmental anomalies that represent the simplest form of teratoma. They are the result of the sequestration of the skin along the lines of embryonic closure. These cysts of the head and neck are uncommon and account for 7% of all dermoid cysts. They are predominantly found in the orbit, floor of mouth, and nose. As a dermoid cyst of the parotid gland is extremely rare, it is often misdiagnosed preoperatively. By way of imaging modalities such as computed tomography, MRI and ultrasongraphy along with FNAB, it can be differentiated from many other cystic lesions of the parotid gland. We report a case of dermoid cyst of the parotid gland which masqueraded as lipoma before complete surgical excision.

• Clinical and Experimental Pediatrics
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• 제45권5호
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• pp.711-715
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• 2002

저자들은 1년 3개월된 남아에서 현재까지 보고된 상기 증상들 이외에 우측 신장의 수신증과 무한증이 동반된 1레를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Chest Surgery
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• 제44권1호
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• pp.86-88
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• 2011

Bronchogenic cysts are developmental foregut anomalies usually located within the mediastinum or lung parenchyma. An isolated bronchogenic cyst of the diaphragm is very rare. Our case was a 56-year-old female patient who presented with pleuritic chest pain in her right chest. Chest and abdominal computed tomography revealed a large lobulated cystic mass that was accompanied with pleural effusion in the right lower hemithorax. The tumor showed focally calcified areas in the wall and abutted against the diaphragm. We performed complete excision of the cyst including a portion of the diaphragm attached to it. The pathological diagnosis was established as the bronchogenic cyst originating from the diaphragm. We report this case with a review of the literature.

• Restorative Dentistry and Endodontics
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• 제39권4호
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• pp.319-323
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• 2014

In dentistry, the term 'fusion' is used to describe a developmental disorder of dental hard tissues. In the permanent dentition, fusion of a normal tooth and a supernumerary tooth usually involves the incisors or canines. However, a few cases of fusion involving premolars have also been reported to date. We present a rare case in which fusion of the maxillary left second premolar and a supernumerary tooth in a 13-year-old girl was diagnosed using cone beam computed tomography (CBCT, Alphard-3030, Asahi Roentgen Ind. Co., Ltd.). The tooth was bicuspidized after routine nonsurgical root canal treatment, and the separated teeth underwent appropriate restoration procedures. The second premolar and supernumerary tooth remained asymptomatic without any signs of inflammation after a follow-up period of 9 years. Identification of anatomical anomalies is important for treatment in cases involving fusion with supernumerary tooth, and therefore the microscopic examinations and CBCT are essential for the diagnosis. Fused teeth can be effectively managed by the comprehensive treatment which includes both endodontic and periodontal procedures.

• 대한심미치과학회지
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• 제29권1호
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• pp.13-24
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• 2020

임플란트 술식은 그 동안 많은 발전을 하였고, 자연치를 대체할 훌륭한 치료법임에는 부인할 수 없지만 치주인대가 존재하지 않는 구조적 한계점, 발치 직후 시작되는 bundle bone의 흡수는 자연치와 같은 적절한 emergence profile을 만들어내기 어려울 수 있고 이는 심미적인 결과로 이어질 수 있다. 만약 해당 환자의 구강 내에 건전한 제3대구치가 있고, 결손부위의 염증상태가 심각하지 않으면 건전한 제3대구치를 결손된 부위로 이식하여 치아를 재건할 수 있다. 성공적인 자가치아이이식술은 저작기능을 회복하고, 자가치아를 이용하기에 생체 친화적이며, 치조골의 흡수를 예방하는 훌륭한 치료이기 때문에 가능하기만 하다면 첫번째 치료로 충분히 고려될 수 있을 것이다.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.92-96
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• 2020

Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is an autosomal-dominant, extremely rare neurodevelopmental disorder caused by the heterozygous EBF3 gene mutation. EBF3 is located on chromosome 10q26.3 and acts as a transcription factor that regulates neurogenesis and differentiation. This syndrome is characterized by dysmorphism, cerebellar hypoplasia, urogenital anomaly, hypotonia, ataxia, intellectual deficit, and speech delay. The current report describes a 3-year-old Korean male carrying a de novo EBF3 mutation, c.589A>G (p.Asn197Asp), which was identified by whole exome sequencing. He manifested facial dysmorphism, hypotonia, strabismus, vermis hypoplasia, and urogenital anomalies, including vesicoureteral reflux, cryptorchidism, and areflexic bladder. This is the first report of a case of HADDS cause by an EBF3 mutation in the Korean population.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제22권4호
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• pp.442-448
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• 2000

저자들은 2례의 제2새열낭종을 경험하였다. 증례 1은 26세의 여자에서 3년 전부터 서서히 크기가 증가하다가 1년 전 임신과 함께 현저히 크기가 증가한 병력이 있으며, 낭종은 우측 악하부와 흉쇄유돌근 전내측에 위치한 무통성의 파동을 보이는 $7.5{\times}5{\times}4cm$ 크기의 연성 종물로서 내외측으로 누공 형성은 없었다. 증례 2는 56세 남자에서 2년전 악하간극 농양으로 진단하고 절개 및 배농을 시행한 병력이 있으며, 낭종은 좌측 악하부와 흉쇄유돌근 전내측에 위치한 무통성의 파동을 보이는 $5.5{\times}4{\times}3cm$ 크기의 연성 종물로서 역시 내외측으로 누공 형성은 보이지 않았다. 조직학적으로 중층편평상피로 이장되어 있었고 상피 하방에서는 림프양 조직이 관찰되었으며, 완전절제술을 시행한 다음 술후 $3{\sim}4$년이 경과된 현재까지 재발이나 다른 합병증 없이 양호한 경과를 보이고 있다.

• 대한치과보존학회:학술대회논문집
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• 대한치과보존학회 2001년도 춘계학술대회
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• pp.247-251
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• 2001

;A dental developmental anomaly is defined as an isolated aberration in tooth form, caused by a disturbance or abnormality which occurred during tooth development. There are numerous types of dental anomalies, and a considerable variation in the extent of the defects occurs with each type. Teeth with these anomalies pose unique challenges. Since the defects are not always apparent clinically, they can confuse diagnosticians investigating the etiology of pulpal pathosis. When endodontic treatment is required, the defects often hinder access cavity preparation and canal instrumentation. Treatment planning also becomes more challenging, since the defects can create complicated periodontal problems, and the malformed teeth can be difficult to restore, particularly those weakened by endodontic therapy. Fusion is defined as the joining of two developing tooth germs resulting in a single large tooth structure. The incidence of fusion is < 1% in the Caucasian population, and it is believed that physical force or pressure produces contact of the developing teeth. Clinically and radiographically, a fused tooth usually appears as one large crown with at least partially separated roots and root canals. There may be a vertical groove in the tooth crown delineating the originally separate crowns. Dens invaginatus is a deep surface invagination of the crown or root that is lined by enamel. Teeth in both maxillary and mandibular arches may be affected, but the permanent maxillary lateral incisor is the tooth most commonly involved. Studies have revealed an incidence ranging from 0.25% to as high as 10%. The invagination ranges from a slight pitting to an anomaly occupying most of the crown and root. The invagination frequently communicates with the oral cavity, allowing the entry of irritants and microorganism either directly into pulpal tissues or into an area that is deparated from pulpal tissues by only a thin layer of enamel and dentin. This continuous ingress of irritants and the subsequent inflammation usually lead to necrosis of the adjacent pulp tissue and then to periapical or periodontal abscesses. If the invagination extends from the crown to the periradicular tissue and has no communication with the root canal system, the pulp may remain vital. Recommended treatment of fused tooth and dens invaginatus has been reported in the endodontic literature. This case report describes the endodontic treatment of a maxillary laterl incisors having fused crown and dens invaginatus.natus.

• Clinical and Experimental Reproductive Medicine
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• 제26권1호
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• pp.43-54
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• 1999

Klinefelter's syndrome is a very important disease in gynecologic endocrinologic fields, because the patients with this karyotype complain of infertility, azospermia and ambiguous genitalia. Y chromosome is an important chromosome which determine genetic sex and the structure of gonad and genitalia. In this study, to elucidate the cytogenetic characteristics and clinical features of Klinefelter's syndrome and Y chromosomal abnormalities in Korea, we studied 303 cases of Klinefelter's syndrome and 11 cases of Y chromosomal abnormalities which were diagnosed by chromosomal analysis at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 12 years from January 1984 to December 1996. The results of this study showed as follows: 1. In a total of 9275 cases, there were 303 cases (3.3%) of Klinefelter's syndromes, 11 cases (0.1%) of Y chromosomal abnormalities. 2. In 102 cases of patients showed typical clinical features of Klinefelter's syndrome, 101 cases (99%) of them were diagnosed to Klinefelter's syndrome in karyotyping. 3. In 303 cases of Klinefelter's syndrome, there were 277 cases (91.4%) of 47,XXY complement, 16 cases (5.3%) of mosaicism, 2 cases (0.7%) of 48,XXXY, 5 cases (1.7%) of 48,XXYY and 3 cases (1.0%) of 49,XXXXY. 4. In 303 cases of Klinefelter's syndrome, 284 cases (93.7%) of them were diagnosed after puberty and only 19 cases (6.3%) of them were diagnosed before puberty. 5. In 303 cases of Klinefelter's syndrome, there were 146 cases (48.2%) of patients with infertility-associated chief complaints, 101 cases (33.3%) of patients with typical clinical features of Klinefelter's syndrome, 22 cases (7.3%) of patients with ambiguous genitalia. 6. In patients with Klinefelter's syndrome, 48,XXYY and 49,XXXXY had serious symptoms such as mental retardation, developmental delay, Down syndrome-like features, congenital anomalies, but 48,XXYY and other mosaicisms had infertility-associated symptoms or ambiguous genitalia. 7. The 8 cases of polysomy Y (XYY complement) showed several serious symptoms such as Down syndrome-like features, mental retardation, fragile X syndrome-like feature, congenital anomalies, ambiguous genitalia which could be detected before puberty.

• Archives of Plastic Surgery
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• 제37권5호
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• pp.695-698
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• 2010

Purpose: Supernumerary nipple or polythelia is one of the developmental anomalies occurring at the embryonic stage and this anomaly usually arises from the milk line. While this atypical feature is determined during early developmental stage, it may not come out obviously or become troublesome until puberty or lactation. Moreover, sometimes it is confused with a pigmented nevus. Methods: Case 1, a 18-year-old woman with intramammary supernumerary breast consisted of another nipple with middle sized areola on the right lower breast was admitted for a $2.8{\times}3.1\;cm$-sized mass on the right breast which was starting appeared 1 year earlier. The preliminary cytological examination of the material obtained by needle aspiration biopsy from the mass was revealed by fibroadenoma with no malignant change. The patient had the surgical excision of the mass and accessory breast. Case 2, a 16 year-old woman admitted for intra-areolar polythelia of the left breast, even she doesn't have any family history of polythelia. Since she wanted surgical correction of her atypical nipple for aesthetic and psychological reasons, we reconstructed the areola using transposition flaps in an S-plasty design. Results: Case 1, the excised supernumerary nipple showed following histological features. In the superficial layer, an acanthotic and hyperpigmented epithelium with elongated rete ridges was found. In the dermis, there were follicles with hairs surrounded by hypertrophic sebaceous glands. In the deepest portion, abundant secretory glomerules and excretory ducts of apocrine gland type were observed. Case 2, follow-up visits 3 months after the procedure showed a satisfactory result with good shape and projection of the nipple. Conclusion: We report two cases of aberrant mammary tissue who underwent surgical correction, including complete breast (with nipple, areola, and glandular tissue) and intra-areolar polythelia according to the Kajava's classification, and the results were satisfactory.