Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder caused by mutations in an ABC (ATP-Binding Cassette) transporter gene (ABCC6), which manifests with cutaneous, ophthalmologic, and cardiovascular findings. We studied a cohort of 19 families with PXE, and identified 16 different mutations, nine of which were novel variants. The mutation detection rate was about 77%. We fou...

UNLABELLED Pseudoxanthoma elasticum (PXE) is a progressive disorder of elastic fibers in skin, eyes, and arterial walls. It is caused by mutations in the ABCC6 gene. Most patients are sporadic cases. The majority of familial cases show autosomal recessive (AR) inheritance, but autosomal dominant (AD) inheritance has also been reported. We reviewed the literature on AD PXE and we studied in deta...

SUMMARY Pseudoxanthoma elasticum (PE) is a rare genetic disease characterized by calcification and fragmentation of elastic fibers of the skin, retina, and cardiovascular system. We report a case of PE in which fractional carbon dioxide laser treatment was successfully used to achieve improvement of the cervical skin with 2-year follow-up, in a patient with Fitzpatrick skin type IV. After the f...

Fibroelastolytic papulosis of the neck (FEPN) encompasses a spectrum of two disorders that were previously reported as pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) and white fibrous papulosis of the neck (WFPN). The clinical presentation of FEPN is asymptomatic to mildly pruritic whitish-yellow papules that may coalesce into cobblestone patterned plaques that resemble ps...

The most characteristic ocular lesions in pseudoxanthoma elasticum are the angioid streaks which may be seen in about 85 per cent. of cases. The associated features in the fundus are a peculiar mottled appearance (Shimizu, I96I), peau d'orange (Smith, Gass, and Justice, I964), and yellowish-white spots (salmon spots). While most subjects showing angioid streaks have pseudoxanthoma elasticum, cl...

The periumbilical perforating pseudoxanthoma elasticum or perforating calcific elastosis is a rare disorder and its pathogenesis is associated with the alteration of elastic fibers, which may probably result from trauma. We present the case of a 70-year-old woman with long-time blackish maculas and keratotic surface papules on the periareolar and periumbilical regions. The histopathological exa...