A Rare Soft Tissue Tumor Masquerading as a Parathyroid Adenoma in a Patient with Birt-Hogg-Dubé Syndrome and Multiple Cervical Endocrinopathies

Abstract EN

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.