Cardiovascular Complications of Cutis Laxa Syndrome

Abstract

Cutis laxa syndrome is a rare inherited connective tissue disorder characterized by inelastic loose hanging skin, which gives the appearance of premature aging. Histology shows degenerative changes in the elastic fibers of the connective tissue throughout the body. Severe aortic dilatation may occur because of medial elastic fiber degeneration. We report the case of a 27-year-old man with a confirmed diagnosis of cutis laxa syndrome. The patient, of Albanian ethnic origin, had no family history of the disease and no consanguinity between parents. All siblings, 4 brothers and 3 sisters, are well and free of disease. He was asymptomatic, but because of his loose facial skin and senile appearance (Figure 1), he consulted a dermatologist concerning having plastic surgery on his face, which he subsequently had performed. The dermatologist suspected cutis laxa and referred him for a full assessment of his condition. Figure 1. Physical appearance of the patient. Aged appearance with wrinkly skin on the dorsal aspect of the arms ( A ), neck ( B ), and back ( C ). His ECG showed sinus rhythm with no rhythm or conduction disturbance. Chest x-ray (Figure 2A) showed abnormalities …