A 23-month-old girl with a PRKAR1A mutation and Carney complex presented with an ear lobe myxoma, marking the earliest reported presentation of this lesion in the literature.
Case Report (n=1)
This case highlights that ear lobe myxomas can present as early as 23 months of age in patients with Carney complex.
Myxomas of the ear are extremely uncommon, especially in young children. A 23-month-old girl born to a family with known Carney complex, a condition that predisposes to multiple myxomas, presented with a large, cauliflower-like mass located on the back of her right ear. Histopathologically, the lesion was composed of scattered spindle-shaped or stellate cells with abundant associated mucin and a very sparse inflammatory infiltrate containing lymphocytes and neutrophils. The patient was a carrier of a protein kinase A regulatory subunit 1A (PRKAR1A) mutation; PRKAR1A mutations cause Carney complex in most patients with this rare disorder. This is the earliest presentation of an ear lobe myxoma reported in the literature.
Briassoulis et al. (Thu,) conducted a case report in Carney complex with ear lobe myxoma (n=1). A 23-month-old girl with a PRKAR1A mutation and Carney complex presented with an ear lobe myxoma, marking the earliest reported presentation of this lesion in the literature.