Abstract
Introduction Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by hypoelastic, loose skin due to a deficiency of dermal elastic fibers or reduced elastin synthesis by fibroblasts. Patients with CL can have systemic disease manifestations with loss of tissue support in the lungs, gastrointestinal (GI) tract, heart, vasculature, and urogenital system. Pulmonary manifestations include bronchiectasis and emphysema leading to advanced lung disease, and a literature review revealed a case of successful bilateral lung transplantation (LT) for juvenile emphysema associated with CL. We report a suspected case of CL-associated end-stage emphysema in a young adult and describe the implications of extrapulmonary disease on LT candidacy. Case Report A 34-year-old male never-smoker with advanced obstructive lung disease, skin laxity leading to older appearance, hiatal and ventral hernia repair, and bilateral foot drop was transferred to our center for LT evaluation. His chest CT showed severe panacinar bilateral emphysema with a large left basilar bulla, an umbilical hernia, and a hiatal hernia. An echocardiogram showed a normal left and right ventricular fraction, and no structural valvular disease. His GI evaluation was notable for gastroparesis, impaired swallow with laryngeal penetration of thin liquids, and a large right-sided 1.4 cm Killian Jamieson and 2.3 cm Zenker's diverticula. A CT of the soft tissue of his neck with contrast showed symmetric outpouchings emanating from the lower pharynx and the proximal cervical esophagus, and an abdominal CT was notable for colonic enlargement with a diameter of 6 cm. After a careful multidisciplinary board review, the patient was deemed an LT candidate, but would require prolonged tube feeding to prevent aspiration associated with esophageal diverticula and hiatal hernia. The patient elected to pursue hospice care to avoid feeding tube dependence. Discussion Although LT can be considered in patients with CL-associated pulmonary disease, the deficiency of elastic fiber can lead to thin and fragile bronchial cartilage that can contribute to post-LT airway complications. Additionally, extrapulmonary disease manifestations may lead to increased post-LT morbidity and mortality due to GI, cardiac, and vascular complications. Lastly, although surgical interventions are generally uncomplicated for patients with CL, outcomes are often temporary and relapse is common, as noted in our patient with recurrent GI hernias and prominent diverticula.