pseudoxanthoma elasticum

Last reviewed 01/2018

Pseudoxanthoma elasticum is an autosomal recessive disorder of elastic fibres characterized by xanthoma-like yellowish nodules, especially in the axillae and neck.

Patients with this condition may also have angioid streaks of the optic fundus and angiomatous malformations of the blood vessels (which can bleed into the gastrointestinal tract).

A similar condition may also occur with long-term and high-dose treatment with D-penicillamine which produces similar cutaneous features.