A case of sporadic carney complex diagnosed with cutaneous myxoma of the right cheek

Hiroko Sonoyama, Eri Yoshimi, Toshihiko Mashino, Tokuo Mukai, Masutaka Furue

研究成果: Contribution to journalArticle査読

抄録

A 17-year-old man presented with a subcutaneous tumor on his right cheek. Histopathology of the excised tumor was cutaneous myxoma. He also had multiple spotty skin pigmentation on the lip. Echocardiography revealed a myxoma in his left atrium; thus, we established a diagnosis of Carney complex (CNC). Other systemic abnormalities included testicular calcifications and growth hormone-producing pituitary adenoma. CNC is a very rare syndrome characterized by cutaneous and cardiac myxomas, skin pigmentations, and various kinds of endocrine overactivity/tumors. Half of these patients exhibit autosomal dominant inheritance associated with PRKAR1A gene mutations. A frameshift mutation of PRKAR1A was detected in the present case, while its mutations were not detected in other family members. The most cautious symptom in CNC is a cardiac myxoma that may cause sudden death. Therefore, early and appropriate diagnosis is crucial in CNC wherein skin symptoms usually precede systemic complications.

本文言語英語
ページ(範囲)180-183
ページ数4
ジャーナルNishinihon Journal of Dermatology
81
3
DOI
出版ステータス出版済み - 2019
外部発表はい

All Science Journal Classification (ASJC) codes

  • Dermatology

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