Abstract
Ectopic thymic tissue within the thyroid gland is rare. Patients with a complex of myxomas, spotty skin pigmentation, and endocrine overactivity, collectively known as Carney complex (CNC), have a predisposition towards the development of thyroid abnormalities, but there are no reports of thymic defects in CNC. We present the case of a 12-year-old boy with CNC and a growing thyroid nodule. The patient had the c.682 C > T (Arg228X) pathogenic PRKAR1A mutation. Hemithyroidectomy for a Hürthle cell adenoma led to the confirmation of distinct intrathyroidal ectopic thymic tissue. Thymic abnormalities have not been previously reported in CNC.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, N.I.H., Intramural
MeSH terms
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Adenoma, Oxyphilic / pathology
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Child
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Choristoma / pathology*
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Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / genetics
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DNA / biosynthesis
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DNA / genetics
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Diagnosis, Differential
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Humans
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In Situ Hybridization, Fluorescence
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Lentigo / complications
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Lentigo / pathology*
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Male
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Multiple Endocrine Neoplasia / complications
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Multiple Endocrine Neoplasia / pathology*
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Pigmentation Disorders / complications
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Pigmentation Disorders / pathology*
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Syndrome
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Thymus Gland / pathology*
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Thyroid Nodule / pathology*
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Thyroidectomy
Substances
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Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
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PRKAR1A protein, human
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DNA