title: A rare soft tissue tumor masquerading as a parathyroid adenoma in a patient with birt-hogg-dubé syndrome and multiple cervical endocrinopathies.
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.
authors.affiliation: Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA 17033, USA.
authors.forename: Kael V
authors.initials: KV
authors.lastname: Mikesell
authors.affiliation: Department of Surgery, Penn State Milton S. Hershey Medical Center, Hershey, PA 17033, USA.
authors.forename: Afif N
authors.initials: AN
authors.lastname: Kulaylat
authors.affiliation: Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA 17033, USA.
authors.forename: Keri J
authors.initials: KJ
authors.lastname: Donaldson
authors.affiliation: Department of Surgery, Penn State Milton S. Hershey Medical Center, Hershey, PA 17033, USA.
authors.forename: Brian D
authors.initials: BD
authors.lastname: Saunders
authors.affiliation: Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, PA 17033, USA.
authors.forename: Henry S
authors.initials: HS
authors.lastname: Crist