Abstract:

Carney complex (CNC) is an autosomal dominant multiple neoplasia syndrome, characterized by development of endocrine (thyroid, pituitary, adrenocortical and gonadal) and non-endocrine (mesenchymal and melanocytic) tumors. We present a 12-year-old boy with CNC. He was initially found to have a superficial angiomyxoma of the hard palate and was presumed to have CNC at 2 years old. Genetic test performed at 3 years old revealed a Q167X nonsense mutation (c.499 C>T) in the PRKAR1A gene. This specific mutation had not been previously reported, but supported the diagnosis of CNC. Over the years, the patient developed multiple mucosal and cutaneous superficial angiomyxomas. A recent biopsy from the eyebrow showed a proliferation of basaloid cells set in myxoid stroma and showing prominent retraction artifact. Immunohistochemical stains showed the basaloid proliferation was positive for BCL-2. These findings were concerning for basal cell carcinoma. However, the stroma stained positive for CD34, a finding more in-keeping with a diagnosis of superficial angiomyxoma than the stroma of basal cell carcinoma. While basaloid proliferations have been reported previously in epidermis overlying cutaneous myxomas, this case shows they are not limited to the epidermis, and highlights the extent to which they may resemble a basal cell carcinoma. Awareness of this phenomenon can aid in avoiding a misdiagnosis of malignancy in patients with CNC.

Financial Disclosure:
No current or relevant financial relationships exist.

Menu

Blaine Berger, MD