Case Report: An Atypical Case of Carney Complex

24 October 2021: Articles

Challenging differential diagnosis, Rare disease

Zulqarnain Khan ^A* , Hani Alkhatib ^A , Gautam V. Ramani ^D

DOI: 10.12659/AJCR.933744

Am J Case Rep 2021; 22:e933744

Table 1. Diagnostic criteria for Carney complex (CNC) [4]. [Adapted from Mateus et al. 2008].

Major Diagnostic Criteria for Carney Complex (CNC) [4]
1.	Spotty skin pigmentation with typical distribution (lips, conjunctiva, inner/outer canthi, vaginal and penile mucosa)
2.	Cutaneous and mucosal myxoma
3.	Cardiac myxoma
4.	Breast myxomatosis or fat-suppressed MRI suggestive
5.	Primary pigmented nodular adrenocortical disease (PPNAD) or paradoxical positive response of urinary glucocorticoid excretion following dexamethasone administration
6.	Acromegaly due to growth-hormone producing adenoma
7.	Large-cell calcifying Sertoli cell tumor (LCCSCT) or calcifications on testicular ultrasound
8.	Thyroid carcinoma or multiple hypoechoic nodules on thyroid ultrasound (< 18 y.o.)
9.	Psammomatous melanotic schwannomas (PMS)
10.	Blue or epithelioid blue nevus
11.	Breast ductal adenoma
12.	Osteochondromyxoma
^* Following histologic confirmation.
Supplementary Criteria for CNC
1.	Affected first-degree relative
2.	Inactivating pathogenic variant in PRKAR1A gene
^* Following histologic confirmation.