Peau d’orange – orange peel - pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a relatively rare disease in which there is progressive mineralization and fragmentation of elastic fibers.
Bruch’s membrane a thin layer in the eye contains elastic fibers whose mineralization and fragmentation results in the back part of the eye, visible using special equipment, becoming mottled thereby resembling an orange peel – peau d’orange.
PXE is usually inherited in an autosomal recessive manner meaning that each parent has a single genetic mutation but remains largely unaffected by disease; when two such parents – each carrying a single mutation - have children, on average one in four of their children will have two genetic mutations resulting in full disease manifestation.
The skin, blood vessels and heart contain elastic fibers and are consequently also affected in PXE. On the skin one may see a plucked chicken skin appearance.
Reference:
Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A: Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet, 2005 42(12):881–892. Go to reference

Autosomal recessive inheritance

Image from Wikimedia Commons