Endocrine Abstracts

Introduction

Carney complex (CNC) is an extremely rare genetic syndrome of pigmented skin lesions, endocrine hyper-function and myxoma. Given its diverse clinical manifestations, CNC is often misdiagnosed. Recognition of some special clinical manifestations and imaging features may help with the diagnosis. We report the case of CNC with endocrine and cutaneous tumors.

Case

A 50 years old female patient followed for acromegaly for 10 years, had undergone transsphenoidal surgery. She has a history of thyroidectomy for goiter, operated twice for melanotic schwannoma of the neck and multiple lipomas. There was no similar case in her family. The diagnosis of CNC was retained. Screening of PRKAR1A is ongoing.

Discussion and conclusion

Carney complex (CNC) is a very rare disease which is often misdiagnosed because of its diverse clinical characteristics. It was first described in 1985 by J Aidan Carney, and its main clinical features are spotty pigmentation, endocrine overactivity, and myxoma. The regulatory subunit (R1A) of the protein kinase A(PRKAR1A) gene is implicated in its causation. The PRKAR1A mutations causing CNC have been identified in 70%of the total cases reported worldwide. The exact prevalence of Carney complex is unknown. Around 750 cases from many ethnicities have been reported worldwide since 1985. The prevalence can be underestimated because the diagnosis is challenging, and the awareness of this rare and complex disorder is insufficient among the medical community.