• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제12권1호
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• pp.46-50
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• 2009

Cowden 증후군으로 진단되어 추적 관찰 중인 21세 여자에서 위장관 용종의 정기적 관찰을 위하여 시행한 내시경 검사 중 캔디다 식도염이 발견되어 문헌 고찰과 함께 보고한다. 면역학적 이상, 진균 식도 감염의 선행 질환, 투약의 병력이 없었고, 뚜렷한 식도 감염의 임상 증상도 없었다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제7권1호
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• pp.112-118
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• 2004

위장관에서 용종성 병변이 있을 때 Cowden 증후군의 감별이 필요하며 소아 연령에서는 모든 증상이 발현되지 않으므로 추적 관찰이 필요하리라 판단된다. 특히, 식도의 극세포증은 모습이 독특하고 거의 대부분의 증례에서 보고되고 있어 최근 Cowden 증후군의 진단 시 질병특유의 기준으로 활용되기도 하므로 특히 염두에 둘 필요가 있으며, 그러나 소아 연령에서는 적절한 나이가 될 때까지는 극세포증의 발현이 지연될 수 있음도 반드시 고려하여야 할 것으로 판단된다.

• Journal of Breast Disease
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• 제6권2호
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• pp.79-83
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• 2018

Cowden syndrome (CS), also known as multiple hamartomas syndrome, is a rare hereditary autosomal dominant disorder caused by a germline mutation in the phosphatase and tensin homolog (PTEN) gene mapped on chromosome 10. The clinical features of CS are variable, primarily presenting as mucocutaneous lesions (99%). A mucocutaneous lesion, such as trichilemmoma of the face or keratosis of the extremities, is an important diagnostic marker for CS. CS has been reported to increase the incidence of benign and malignant neoplasms in the breast, thyroid, and gastrointestinal tract. The risk of developing malignancy in individuals with CS is up to 10 times higher than general population throughout an entire life time.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제20권1호
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• pp.65-70
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• 2017

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea. Here we report a case of a 19-year-old girl who was diagnosed with BRRS because of macrocephaly, intellectual disability, and intestinal polyps. Her mother had similar findings and a PTEN mutation. Neither patient had mutations detected by conventional mutation-detection techniques, but a PTEN gene deletion was demonstrated by chromosomal microarray analysis.

• 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.