Pseudoxanthoma elasticum (PXE) is a rare genetic disorder of connective disorder.


Synonym: Gronblad-Strandberg Syndrome


Inheritance: autosomal recessive


Chromosome: 16p13.1


Gene: ATP-binding cassette protein multridrug resistance-associated protein 6 (ABCC6 or MRP6)


Key clinical features:

(1) positive family history with other affected relatives

(2) characteristic skin lesions

(3) angioid streaks in the eye


Skin lesions:

(1) The typical skin lesion is a yellowish papule.

(2) Plaques form as papules coalesce.

(3) Lesions are located on neck and flexural surfaces of joints. The areas may resemble the skin of a plucked chicken.

(4) The skin becomes loose and flaccid over time.


Angioid streaks:

(1) These are breaks in Bruch's membrane.

(2) They radiate from the optic disk and resemble blood vessels (:angioid").

(3) Preceded by a diffuse mottling of the fundus (peau d'orange).


To read more or access our algorithms and calculators, please log in or register.