Presentation and Management of a Novel Ehlers-Danlos COL5A1 Variant With Birt-Hogg-Dube Syndrome: A Case Study

Ehlers-Danlos syndrome (EDS) is a hereditary disorder caused by a mutation in the COL gene, which leads to the faulty synthesis of the collagen protein. EDS can present with a wide array of manifestations depending upon which COL gene is mutated. Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary disorder currently identified in 200 families worldwide. It presents clinically with cutaneous, renal, and pulmonary manifestations due to an autosomal dominant mutation in a tumor suppressor gene, FLCN, on chromosome 17p11.2. We present a case of a 22-year-old male with Birt-Hogg-Dubé syndrome, showing typical features consistent with the classical type of EDS, with genetic testing revealing a COL5A1 mutation of "uncertain clinical significance", not yet reported in clinical literature. We discuss the treatment of this patient and describe the presentations of the two pathologies. Lastly, we put forth guidelines for the management of a dilated ascending aorta, with which this patient presents, for future patients who may present with this novel EDS mutation.