Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity

Pseudoxanthoma elasticum (PXE, MIM 264800) is a rare recessive genodermatosis associated with variable ocular and cardiovascular manifestations, which are the result of mineralization and fragmentation of elastic fibers caused by ABCC6 mutations. Emerging evidences suggest the presence of a disease spectrum and several related phenotypes were described comprising PXE-like with coagulation deficiency (CD) (MIM 610842) [1,2]. Similarities between PXE-like with CD and PXE are striking since they share skin manifestations, i.e., yellowish papules that coalesce and form plaques on the neck and in flexural areas, sometimes referred to as cutaneous peau d'orange (Pd'O), calcification of elastic fibers in the dermis, ocular involvement with angioid streaks (AS), and/or ocular Pd'O.