Arms Lift in a Case of Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder of elastin fibers, characterized by yellowish coalescent papules in flexural surfaces with abnormally lax and corrugated skin. It can be associated to systemic manifestations mostly regarding eyes and vessels. Aesthetic surgery of cutaneous hyperlaxity was described in the international literature only in few cases, mostly as neck lift. A 40-year-old woman presented with cutaneous signs of PXE, demanding brachioplasty. Results after a nine-month followup are quite satisfying, and no signs of local recurrence or scar alterations are present. 1. Introduction Pseudoxanthoma elasticum (PXE) is a rare and heterogeneous hereditary disorder, characterized by frail and fragmented elastin fibers, with calcium deposits. The eyes, the arteries, and the skin are the main sites of clinical manifestations. Essentially two phenotypic varieties have been recognized: the first one with a prevalence of cutaneous lesions and minimal vascular and ophthalmic affections and the second one with relevant ocular and arterial lesions. The skin in the flexural surfaces is abnormally loose and creased, with yellowish papules, with strongly antiaesthetic features. Plastic surgery should therefore be an obvious therapeutic option for these patients. However, few cases of surgical treatment can be found in the literature, all substantially with good results and mostly reporting treatment of neck hyperlaxity. 2. Case Report A 40-year-old patient came to our observation with typical skin features of PXE. No genetic disease was known in her family. When she was eight years old, she noticed the progressive appearance of yellowish papules on the skin of her neck, arms, and thighs. Subsequently, abnormal skin laxity became evident in the same areas, with severe aesthetic consequences (Figures 1(a) and 1(b)). PXE diagnosis was assessed by means of cutaneous biopsy, demonstrating remarkable fragmentation of dermal elastin fibers, with important calcium deposits (Figures 2(a) and 2(b)). Thorough ophthalmic and cardiologic examinations (including heart USG and retinal fluoroangiography) showed no associated disease. Color-Doppler of peripheral arteries demonstrated normal speed and pulse shape. Figure 1: (a) Before surgery. Neck and armpit skin relaxation is evident. (b) Before surgery. Armpit detail. Figure 2: (a, b) Optical microscope (haematoxylin-eosin staining). Elastin fibers are distorted and altered with calcium deposits. Even if neck laxity was the most evident lesion, the patient did not feel much social discomfort about