Long-term Follow-up of a Case of Cowden Syndrome

Cowden 증후군 1례의 장기 추적 관찰

Cowden syndrome is very rare clinical condition with characteristic mucocutaneous lesions associated with abnormalities of the breast, thyroid, and gastrointestinal tract. Here, the case of a 16-year-old girl with diverse gastrointestinal polyposis with breast and thyroid lesions is reported as a definite case of Cowden syndrome. During follow up for 4 years, changes in the characteristic lesions were observed; Esophageal acanthosis and oropharyngeal polyps were newly developed. Gastric, duodenal, rectal and ileal polyps were noted at the first visit when she was 12 years of age and revealed histologically hyperplastic polyps. Mucocutaneous lesions, the pathognomonic finding of Cowden syndrome, were not noted at the first visit or during the follow up period. Breast and thyroid masses were noted at the first visit. Breast aspiration showed highly cellular ductal epithelial fragments and fibroblastic stromal cell fragments, and a thyroid biopsy shows proliferation of irregular sized follicles, with variable colloid contents. Macrocephaly was also noted at the first visit. The characteristic lesions of Cowden syndrome change with the patient's age, and the long-term follow up is recommended in cases suspected with this syndrome.

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.