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

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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)180-183
Number of pages4
JournalNishinihon Journal of Dermatology
Volume81
Issue number3
DOIs
Publication statusPublished - Jan 1 2019

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Carney Complex
Myxoma
Cheek
Skin Pigmentation
Skin
Testicular Hormones
Neoplasms
Frameshift Mutation
Mutation
Pituitary Neoplasms
Lip
Sudden Death
Heart Atria
Growth Hormone
Echocardiography
Early Diagnosis
Cause of Death
Genes

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

A case of sporadic carney complex diagnosed with cutaneous myxoma of the right cheek. / Sonoyama, Hiroko; Yoshimi, Eri; Mashino, Toshihiko; Mukai, Tokuo; Furue, Masutaka.

In: Nishinihon Journal of Dermatology, Vol. 81, No. 3, 01.01.2019, p. 180-183.

Research output: Contribution to journalArticle

Sonoyama, Hiroko ; Yoshimi, Eri ; Mashino, Toshihiko ; Mukai, Tokuo ; Furue, Masutaka. / A case of sporadic carney complex diagnosed with cutaneous myxoma of the right cheek. In: Nishinihon Journal of Dermatology. 2019 ; Vol. 81, No. 3. pp. 180-183.
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