title: Myxoma of the ear lobe in a 23-month-old girl with Carney complex.
abstract: 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.
authors: Section on Endocrinology & Genetics, Program on Developmental Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.
authors: George
authors: G
authors: Briassoulis
authors: Martha
authors: M
authors: Quezado
authors: Chyi-Chia Richard
authors: CC
authors: Lee
authors: Paraskevi
authors: P
authors: Xekouki
authors: Meg
authors: M
authors: Keil
authors: Constantine A
authors: CA
authors: Stratakis
mesh_terms: D056733:Carney Complex / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics / Q000378:metabolism; D005260:Female; D006258:Head and Neck Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D009077:Mucins / Q000378:metabolism; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics / Q000378:metabolism; D012878:Skin Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; D009077:Mucins; D009363:Neoplasm Proteins; C517834:PRKAR1A protein, human