Signs and Symptoms
Symptoms can occur in infants as early as 3 days of age but have also been reported for the first time much later in life, in adults as old as 61 years of age. Patients with congenital PLGD may develop different types of woody-like lesions on mucous membranes in various parts of the body. These swollen lesions differ significantly by their size and the organ system that is involved in patients with these lesions and in the same patient over their lifetime.1
The most common symptom is called the ligneous conjunctivitis. This condition usually appears in infants and children. It is characterized by thick, yellow, white, or red lesions on the inside of the eyelids.²,³ In about one-third of the cases, these lesions form over the white outer layer of the eyeball. They may also grow onto the cornea, the clear layer that protects the iris and pupil. If left untreated, these lesions can tear the cornea, cause scarring, and can lead to vision loss or blindness.1, 4
The second most commonly affected site is the mouth. The lesions, while not painful, appear as bumps (ulcers) or a swelling of the gums. This condition can lead to the loss of teeth and the surrounding bone.5
People with Congenital PLGD may also develop lesions on the mucous membranes in the middle ear and eardrum. If left untreated, chronic ear infections and hearing loss could develop.5
Ligneous lesions may also develop on the lining of the nose and sinuses.3
When lesions develop in the windpipe, or air passage, they can lead to serious complications, such as pneumonia and a life-threatening airway obstruction, especially in children. These can also develop in the vocal cords and other areas in the respiratory tract.5
In some patients with congenital PLGD, lesions can be found on the mucous membranes that line the gastrointestinal tract, which often leads to ulcers.5
These lesions can cause difficulty processing fluids and urinating because of the blockages they create.5
Female Genital Tract
These lesions have been reported in girls as young as 2 years of age but are more frequently reported in adolescents and adult women. Painful menstrual cramps are the most common symptom in adult women.
A skin condition in children, called juvenile colloid millium, is also associated with congenital PLGD. The lesions appear as small, yellow-brown, pimple-like swellings, typically located where the skin is exposed to the sun.5
In a few rare cases, children who have congenital PLGD are born with a buildup of fluid in the skull. This is known as congenital occlusive hydrocephalus. It occurs when the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF) is blocked and unable to drain properly. The extra fluid in the baby’s brain can cause brain damage, as well as mental and physical problems. Surgery is usually needed to help relive the obstruction.5 A deformity of the cerebellum, known as Dandy-Walker Syndrome, can also occur in children with congenital PLGD.1
1. Tefs K, Gueroguieva M, Klammt J, et al. Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients. Blood. 2006;108(9);3021-3026.
2. Shuster V, Hugle B, Tefs K. Plasminogen deficiency. J Thromb Haemost. 2007; 5(12);2315-2322.
3. Bateman JB, Pettit TH, Isenberg SJ, Simons KB. Ligneous conjunctivitis: an autosomal recessive disorder. J Pediatr Ophthamol Stabismus. 1986;23:137-140.
4. Pergantou H, Likaki D, Fotopoulou M, Katsarou O, Xafaki P, Platokouki H. Management of ligneous conjunctivitis in a child with plasminogen deficiency. Eur J Pediatr. 2011;170(10):1333-1336.
5. Mehta R, Shapiro AD. Plasminogen activator inhibitor type I deficiency. Haemophilia. 2008;14(6):1255-1260.
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