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.
| 元の言語 | 英語 |
|---|---|
| ページ（範囲） | 180-183 |
| ページ数 | 4 |
| ジャーナル | Nishinihon Journal of Dermatology |
| 巻 | 81 |
| 発行部数 | 3 |
| DOI | |
| 出版物ステータス | 出版済み - 1 1 2019 |
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All Science Journal Classification (ASJC) codes
- Dermatology
これを引用
A case of sporadic carney complex diagnosed with cutaneous myxoma of the right cheek. / Sonoyama, Hiroko; Yoshimi, Eri; Mashino, Toshihiko; Mukai, Tokuo; Furue, Masutaka.
：: Nishinihon Journal of Dermatology, 巻 81, 番号 3, 01.01.2019, p. 180-183.研究成果: ジャーナルへの寄稿 › 記事
}
TY - JOUR
T1 - A case of sporadic carney complex diagnosed with cutaneous myxoma of the right cheek
AU - Sonoyama, Hiroko
AU - Yoshimi, Eri
AU - Mashino, Toshihiko
AU - Mukai, Tokuo
AU - Furue, Masutaka
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85071919600&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85071919600&partnerID=8YFLogxK
U2 - 10.2336/nishinihonhifu.81.180
DO - 10.2336/nishinihonhifu.81.180
M3 - Article
AN - SCOPUS:85071919600
VL - 81
SP - 180
EP - 183
JO - Nishinihon Journal of Dermatology
JF - Nishinihon Journal of Dermatology
SN - 0386-9784
IS - 3
ER -