Key result
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.
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Ear lobe myxomas may occur before age 2 in Carney complex; extends phenotypic spectrum but remains hypothesis-generating.
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.
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Briassoulis et al. (2011) 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.
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