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).
