A Rare Soft Tissue Tumor Masquerading as a Parathyroid Adenoma in a Patient with Birt-Hogg-Dubé Syndrome and Multiple Cervical Endocrinopathies. (24th December 2014)

• Record Type: Journal Article
• Authors: Mikesell, Kael V.; Kulaylat, Afif N.; Donaldson, Keri J.; Saunders, Brian D.; Crist, Henry S.
• Other Names: Picken Maria M. Academic Editor.
• Is Part Of: Case reports in pathology. Volume 2014(2014)
• Publication Date: 2014-12-24
• Subjects: Pathology -- Periodicals; Pathology; Pathology; Electronic journals; Periodicals; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 616.07
• DOI: 10.1155/2014/753694
• Languages: English
• ISSNs: 2090-6781

Abstract

Abstract : Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder that presents with renal tumors, pulmonary cysts with spontaneous pneumothoraces, and skin hamartomas. We present a case of a 67-year-old female with multiple endocrinopathies and a history of BHD syndrome. In 2011, a thyroidectomy with a four-gland parathyroidectomy was performed for toxic multinodular goiter (TMNG) and parathyroid hyperplasia. On frozen section, a tumor was identified next to a hypercellular parathyroid. After being worked up, this tumor was determined to be an adult rhabdomyoma. This represents the first time that both TMNG and parathyroid hyperplasia have been present in a BHD patient. Additionally, this is the first adult rhabdomyoma reported in a patient with BHD syndrome. Adult rhabdomyomas have no reported associations; however, potential colocation of the mutation in BHD syndrome and translocation in adult rhabdomyomas on chromosome 17p suggests a possible connection. Further work is needed to better understand this connection.