• Archives of Plastic Surgery
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• 제50권4호
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• pp.384-388
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• 2023

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 (PTCH1) gene variants and/or SUFU gene variants. The presence of either two main criteria or one major and two minor criteria are required for the diagnosis of Gorlin-Goltz syndrome. Recently, a major criterion for molecular confirmation has also been proposed. In this article, we report the case of an 80-year-old male who was admitted at our department for multiple brown-to-black papules and plaques on the entire body. He was diagnosed with Gorlin-Goltz syndrome with clinical, radiologic, and pathologic findings. While the diagnosis was made based on the clinical findings in general, confirmation of the genetic variants makes an ideal diagnosis and suggests a new treatment method for target therapy. We requested a genetic test of PTCH1 to ideally identify the molecular confirmation in the hedgehog signaling pathway. However, no pathogenic variants were found in the coding region of PTCH1, and no molecular confirmation was achieved.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제21권1호
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• pp.74-80
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• 1999

본 교실에서는 가족력을 가지며, 하악에 다발성으로 재발된 치성각화낭종의 증례가 있어 보고하는 바이다. 환자들은 한 가족의 어머니와 두 자녀였으며 그중 어머니와 딸의 경우 낭종적출후 수차례의 재발을 보여 딸은 앞으로도 수술을 예정하고 있다. 낭종이외의 다른 기저세포모반증후군의 증거는 보이지 않았다. 처치로서 어머니와 딸의 경우 낭종적출술을 시행하였고 아들의 경우 낭종적출후 결손부의 크기가 커서 동종골이식을 시행하였다. 현재 어머니와 아들의 경우 재발은 보이지 않고 있으나 향후 지속적인 구강검사를 통해 관리예정이며 유전학적인 검사도 고려하고 있다.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제12권1호
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• pp.127-134
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• 1990

본인은 본교실에서 치험한 악골내 발생된 각화성 낭종들중 다발성인 경우에 이상의 증례에서 동반된 이상소견을 의도적으로 조사해 봄으로써, 악골계를 담당하는 의사로서 악골내에서 다발성 낭종이 발견될 때 NBCCS을 간과해서는 안됨을 느끼게 된다. 또한 이상의 증례에서는 확연한 가족력을 찾아볼 수는 없었으나 이 증후군 자체가 상염색체 우성유전으로 인자전달이 잘 되는 것이므로 세심한 주의와 계속적인 관찰이 요하리라 생각된다.

• 대한두경부종양학회지
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• 제37권2호
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• pp.57-60
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• 2021

Tumor of follicular infundibulum (TFI) is a rare benign cutaneous appendage tumor that does not have characteristic clinical features. It is mainly present in the head, neck, and trunk as a solitary lesion. In particular, TFI typically manifests as a plate-like proliferation with multiple thin epidermal connections comprise of monomorphic cells. TFI do not represent cutaneous characteristics, but have clinical significance because TFI is associated with basal cell carcinoma and Cowden's syndrome. We report a case of TFI in parietal scalp with a review of literatures.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제44권3호
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• pp.107-111
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• 2018

Objectives: A keratocystic odontogenic tumor (KOT) is a type of odontogenic tumor that mainly occurs in the posterior mandible. Most KOTs appear as solitary lesions; however, they sometimes occur as multiple cysts. This study analyzed the clinical features of multiple KOTs. Materials and Methods: The participants were diagnosed with KOT by biopsy with multiple surgical sites, and were patients at the Pusan National University Hospital and the Pusan National University Dental Hospital from January 1, 2005 to March 31, 2016. Charts, records, images and other findings were reviewed. Results: A total of 31 operations were conducted in 17 patients. The mean patient age was $28.4{\pm}20.1years$. Multiple KOTs were found to occur at a young age (P<0.01). The predominant sites were in the posterior mandible (28.6%). Most cases of multiple lesions appeared in both the upper and lower jaw, and 40.3% of lesions were associated with unerupted and impacted teeth. The overall recurrence rate measured by operation site was 10.4% (8/77 sites). No patients were associated with nevoid basal cell carcinoma syndrome. Conclusion: The pure recurrence rate was lower than estimated, but there was a higher possibility of secondary lesions regardless of the previous operation site; therefore, long-term follow-up is necessary.

• 대한소아치과학회지
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• 제36권2호
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• pp.270-274
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• 2009

함치성 낭종은 일반적으로 미맹출 치아의 치관을 포함하고 있는 형태로, 치아 법랑질과 이장 상피 사이에 액체가 축적되어 생긴 잔존 법랑 상피조직의 퇴행성 변화로 부터 생긴다. 치근단 낭 다음으로 가장 흔한 치성 낭종으로, 주로 단독으로 발생하고 하악 제 3대구치와 상악 소구치에 호발한다. 악골의 다발성 낭종은 주로 기저세포 모반 증후군과 관련된 치성 각화낭이 대부분이고, 점액다당류증 또는 쇄골두개 이형성증과도 관련이 있을 수 있다. 단발성의 함치성 낭종은 우리에게 친숙할 정도로 유병율에서 치료 및 예후까지 잘 알려져 있으나, 전신병력이 없는 다발성의 함치성 낭종은 드물며, 상악과 하악에 발생한 다발성 낭종은 특히 더 드물다. 본 증례는 편측성으로 양악에 함께 발생한 다발성의 함치성 낭종을 가진 11세 소년에 대한 치료 증례로 1년간의 관찰 후 양호할만한 결과를 얻었기에 보고하는 바이다. 1년이라는 관찰 기간이 짧기 때문에 향후 지속적인 임상적, 방사선적 관찰을 필요로 하리라 사료된다.

• Archives of Plastic Surgery
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• 제44권4호
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• pp.319-323
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• 2017

Background Free-flap surgery and skin grafting can be used to reconstruct large facial defects that may result after skin cancer removal by Mohs micrographic surgery (MMS). However, these two methods may produce low postsurgical patient satisfaction with aesthetics, and free-flap surgery may produce an undue burden for the majority of skin cancer patients, who are of advanced age. Hence, the authors examined outcomes of large facial defect reconstruction using multiple flaps. Methods Among patients undergoing MMS for skin cancer at Pusan National University Hospital between January 2013 and December 2015, we evaluated 7 patients (2 males, 5 females; average age, 73.14 years) treated for large facial defects from basal cell carcinoma. Based on operative and follow-up records, we investigated the number and type of flaps used, postsurgical complications, and patients' post-surgical satisfaction. Results Two and 3 types of flaps were used for 5 and 2 patients, respectively. Most frequently used were nasolabial flaps (7 times in 6 patients) and forehead flaps (once in each of 4 patients). The average follow-up period was 14 months, with no complications-including necrosis, hematoma, or wound dehiscence-observed. Post-surgical satisfaction averaged 4.4 out of a maximum of 5 points. Conclusions Reconstruction using two or more flaps for large facial defects after skin cancer removal using MMS produced satisfactory outcomes while preventing aesthetic problems. Practitioners should consider using multiple flaps when choosing a reconstruction method for large facial defects following skin cancer removal.

• Asian Pacific Journal of Cancer Prevention
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• 제15권8호
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• pp.3471-3476
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• 2014

Background: Aberrant expression of the microRNA-29 family is associated with tumorigenesis and cancer progression. As transport carriers, tumor-derived exosomes are released into the extracellular space and regulate multiple functions of target cells. Thus, we assessed the possibility that exosomes could transport microRNA-29c as a carrier and correlations between microRNA-29c and apoptosis of bladder cancer cells. Materials and Methods: A total of 28 cancer and adjacent tissues were examined by immunohistochemistry to detect BCL-2 and MCL-1 expression. Disease was Ta-T1 in 12 patients, T2-T4 in 16, grade 1 in 8, 2 in 8 and 3 in 12. The expression of microRNA-29c in cancer tissues was detected by quantitative reverse transcriptase PCR (QRT-PCR). An adenovirus containing microRNA-29c was used to infect the BIU-87 human bladder cancer cell line. MicroRNA-29c in exosomes was measured by QRT-PCR. After BIU-87 cells were induced by exosomes-derived microRNA-29c, QRT-PCR was used to detect the level of microRNA-29c. Apoptosis was examined by flow cytometry and BCL-2 and MCL-1 mRNA expressions were assessed by reverse transcription-polymerase chain reaction. Western blotting was used to determine the protein expression of BCL-2 and MCL-1. Results: The expressions of BCL-2 and MCL-1 protein were remarkably increased in bladder carcinoma (p<0.05), but was found mainly in the basal and suprabasal layers in adjacent tissues. The expression of microRNA-29c in cancer tissues was negatively correlated with the BCL-2 and MCL-1. The expression level of microRNA-29c in exosomes and BIU-87 cells from the experiment group was higher than that in control groups (p<0.05). Exosome-derived microRNA-29c induced apoptosis (p<0.01). Although only BCL-2 was reduced at the mRNA level, both BCL-2 and MCL-1 were reduced at the protein level. Conclusions: Human bladder cancer cells infected by microRNA-29c adenovirus can transport microRNA-29c via exosomes. Moreover, exosome-derived microRNA29c induces apoptosis in bladder cancer cells by down-regulating BCL-2 and MCL-1.