We report a case of recurrent massive hemoptysis in a 27-year-old man with Proteus syndrome. Proteus Syndrome is a rare, sporadic, congenital disorder characterized by overgrowth of multiple tissues . It is caused by the sporadic genetic mutation of a somatic gene, which distributes in a mosaic pattern. This mutation results in sporadic growth of varying body tissues occurring primarily in the postnatal period . The phenotypic presentation is varied, depending on the mosaic distribution of the genetic mutation. Typically overgrowth of the skin, vasculature, skeleton, as well as other soft tissues, results in asymmetric deformities of the extremities. Only several hundred patients in the United States and Western Europe are affected with this disease, with less than 150 total reported cases in the world’s literature . Previous reports of pulmonary involvement in Proteus syndrome are limited to PE resulting from DVT in Proteus patients with vascular malformations. Hemoptysis has not previously been reported in Proteus syndrome.
A 27-year-old man with Proteus syndrome presented for evaluation of massive hemoptysis. He was previously diagnosed with Proteus syndrome characterized by asymmetric growth of his lower extremities, venous ectasia of the lower extremities, lipomas, and epidermal nevi (Figure 1). Within one year prior to presentation, he had two episodes of massive hemoptysis requiring hospitalization and transfusion. These episodes occurred during periods of anticoagulation for suspected, but undocumented, PE. Prior work-up included CT scan of the chest, V/Q scan, pulmonary angiogram, and thoracic and bronchial arteriography. The diagnosis at referral was massive hemoptysis secondary to PE. On arrival, he was in his usual state of health without hemoptysis, cough, or shortness of breath. Physical exam was remarkable for phenotypic abnormalities consistent with Proteus syndrome (Figure 1). Echocardiography showed left ventricular ejection of 65%. CT of the chest with contrast (pulmonary angiogram protocol) showed asymmetric adipose growths in the chest wall, no evidence for PE, and no infiltrate or mass. Abdominal and lower extremity ultrasound was negative for acute or chronic thrombosis. Flexible fiberoptic bronchoscopy was performed (Figure 2). Bronchoscopy showed prominent submucosal vessels at RC1 with hypervascularity of the submucosa visible from RC1 through the length of bronchus intermedius. Left sided hypervascular lesions with prominent vessels were also apparent, but limited to the left upper lobe. Based on the bronchoscopic finding of neovascularization of the bronchial submucosa, it was felt this patient’s hemoptysis was secondary to bronchitis in combination with anticoagulation. With no evidence for PE and no current evidence for venous thrombosis, we decided to withhold anticoagulation.
Our patient had massive hemoptysis while on anticoagulation for suspected PE. PE was suspected because of dyspnea in combination with his lower extremity venous ectasias, and previous reports of DVT/PE in Proteus syndrome. Eventually, bronchoscopic examination demonstrated neovascularization of the tracheobronchial tree with prominent submucosal vessels as the likely source for hemoptysis. Neovascularization of the bladder and life threatening hematuria has been reported with Proteus syndrome . However, this is the first case report of massive hemoptysis, and the first time vascular abnormalities of the tracheobronchial tree have ever been described in Proteus syndrome.
This case underscores the important role for bronchoscopy in evaluation of hemoptysis and adds neovascularization of the tracheobronchial tree as a known complication resulting from Proteus syndrome.
C.E. Daniels, None.