Myxoma of the ear lobe in a 23-month-old girl with Carney complex

Authors

  • George Briassoulis,

    1. 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
    2. Department of Pediatrics, University of Crete, Heraklion, Crete, Greece
    Search for more papers by this author
  • Martha Quezado,

    1. Laboratory of Pathology, National Cancer Institute, National Institutes of Health (NIH), Bethesda, MD, USA
    Search for more papers by this author
  • Chyi-Chia Richard Lee,

    1. Laboratory of Pathology, National Cancer Institute, National Institutes of Health (NIH), Bethesda, MD, USA
    Search for more papers by this author
  • Paraskevi Xekouki,

    1. 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
    Search for more papers by this author
  • Meg Keil,

    1. 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
    2. Pediatric Endocrinology Inter-Institute Training Program, National Institutes of Health (NIH), Bethesda, MD, USA
    Search for more papers by this author
  • Constantine A. Stratakis

    Corresponding author
    1. 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
    2. Pediatric Endocrinology Inter-Institute Training Program, National Institutes of Health (NIH), Bethesda, MD, USA
    Search for more papers by this author

Constantine A. Stratakis, MD, D(med)Sci, Section on Endocrinology & Genetics, Program on Developmental Endocrinology & Genetics, NICHD, NIH, Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, MD 20892, USA
Tel: +1 301 496 4686
Fax: +1 301 402 0574
e-mail: stratakc@mail.nih.gov

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.

Briassoulis G, Quezado M, Lee C-CR, Xekouki P, Keil M, Stratakis CA. Myxoma of the ear lobe in a 23-month-old girl with Carney complex.

Ancillary