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
Y1 - 2019
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.
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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 -