Carney Complex: Unusual Presentation

Abstract

Carney complex (CNC) is multiple neoplasia syndrome characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine and non– endocrine tumors. Most of the cases have an inactivating mutation in PRKAR1A gene. Osteochondromyxoma (OMX) is an extremely rare myxomatous tumor of bone, affecting 1% of CNC patients. Large cell calcifying Sertoli cell tumor (LCCSCT) is a testicular tumor affecting more than 75 % of males with CNC. Here, we report a atypical case of CNC without typical pigmented skin lesions, presenting with a bone based tumor as the first manifestation. At first, the patient had recurrent, local invasive intranasal tumor without definite diagnosis. Further clinical developments during follow up, central precocious puberty and testicular tumor with calcification, led the diagnosis of LCCSCT, a CNC related tumor. Histopathologic examination of intranasal tumor was reevaluated with this knowledge and OMX was diagnosed. Coexistence of OMX and LCCSCT suggested CNC. Genetic analysis revealed heterozygous non-sense p.Trp 224* (c.672G>A ) in PRKAR1A gene. In our case, the diagnosis of OMX was delayed, because it is extremely rare and little is known about this tumor. In this report, we wanted to emphasize osteochondromyxoma, as a component of CNC.