This condition was first described in the mid-nineteenth century. It is now recognized to be an inflammatory process that often involves other surface membranes throughout the body, caused by a gene mutation that interferes with normal wound healing.
The most commonly affected site is the inside surface covering of the eyelids known as the conjunctiva and is therefore a cause of conjunctivitis. The cornea (windshield of the eye) may also be involved resulting in scarring and even weakening of the tissue in which case vision may be impacted. Other surfaces tissues in places such as the mouth, throat, ears, airways, vagina and even the kidneys may be involved. The disease begins as an inflammation followed by the growth of a thick white, yellow-white or reddish membrane on the surface of these tissues. These membranes may be sufficiently large to cause obstruction and this is a particular threat in airways of young children.
A significant proportion of children have hydrocephalus requiring shunts to drain fluid.
Based on family and genetic studies, this condition is considered an autosomal recessive condition. Two copies of the mutation are necessary for the disease to be expressed and this requires that each parent contribute a copy. Such carrier parents do not have clinical disease but the risk to each of their children is 25% for the full disease.
The diagnosis is based on the clinical findings. Since these can involve many parts of the body, the diagnosis may be made by any physician but the most common location is in the eyelids and an ophthalmologist is likely to be involved. The acute disease can be intermittent and spontaneous resolution has been reported. The membranes can be surgically removed but often reoccur aggressively. Encouraging improvement has been reported with the use of plasminogen, either topically in form of drops to the eye or given systemically when lesions are more extensive.