Connecting the Dots of a Rare Connective Tissue Disease: Pseudoxanthoma Elasticum.

Pseudoxanthoma elasticum (PXE) is a rare, autosomal recessive connective tissue disease that manifests primarily in the skin, eyes, vasculature, and gastrointestinal tract. Most cases occur in women and are present in the third decade of life. Diagnosis is confirmed via skin biopsy or by genetic testing that reveals a variant ABCC6 gene. We present the case of a 68-year-old woman who came to the clinic to discuss her daughter's diagnosis of PXE, specifically, what testing she and her family should pursue. A family pedigree revealed a strong family history of abdominal aortic aneurysm (AAA). Although PXE has not been directly related to AAA, this raised concern for familial connective tissue disease. It was recommended that all family members undergo AAA screening with ultrasound, but that not all family members warranted genetic testing. Patients diagnosed with PXE should establish care with specialists to monitor for adverse outcomes.

Soccer player with unusual right shoulder and arm pain and swelling.

INTRODUCTION Paget-Schroetter syndrome, or effort thrombosis, refers to a deep venous thrombosis in an upper extremity. It is most commonly located in the axillary or subclavian veins and is associated with vigorous repetitive movements and anatomic abnormalities. CASE PRESENTATION This case study describes an 18-year-old Division 1 soccer player who presented with worsening axillary swelling and pain. He was found to have subclavian stenosis at the level of the thoracic inlet between the clavicle and first rib, with deep venous thrombosis in his right axillary, subclavian, proximal brachial, and basilic veins. It was diagnosed with ultrasound and confirmed with venography. He was treated initially with enoxaparin and warfarin before having mechanical thrombolysis, balloon venoplasty, infusion of tissue plasminogen activator, and a right first rib resection. CONCLUSION As Paget-Schroetter syndrome is rare, early recognition and management leads to fewer long-lasting sequelae and less morbidity. Left untreated, it can result in pulmonary embolism and residual upper extremity obstruction.