SNP Shot: Genomic Insights

Congenital plasminogen deficiency is a condition characterized by inflamed lesions on mucous membranes. These moist tissues line body orifices like the eyelids and the mouth's interior. These lesions typically arise due to infections or injuries, but can also appear without any identifiable cause. These growths have a tendency to reappear even after surgical removal.

The conjunctiva, the mucous membranes protecting the sclera (white of the eye) and lining the eyelids, are most commonly affected by congenital plasminogen deficiency. A hallmark of this condition is ligneous conjunctivitis. This involves fibrin accumulation, causing conjunctival inflammation (conjunctivitis) and resulting in thick, woody (ligneous), inflamed lesions, colored yellow, white, or red. Ligneous conjunctivitis frequently manifests on the inner eyelids. However, approximately one-third of cases involve the sclera, where the ligneous conjunctivitis extends onto the cornea, the clear protective layer over the iris (colored part of the eye) and pupil. Such growths can lead to corneal tears or scarring. These corneal issues, along with obstruction from growths inside the eyelid, can impair vision.

Individuals with congenital plasminogen deficiency can also develop ligneous growths on other mucous membranes, such as the oral cavity and gums, the nasal lining, and the vagina in females. Growths within the gastrointestinal tract's mucous membrane lining can cause ulcers. These growths may also appear in the trachea (windpipe), potentially leading to life-threatening airway obstruction, particularly in children. In rare instances, affected individuals are born with impaired drainage of cerebrospinal fluid (CSF), the fluid surrounding the brain and spinal cord, resulting in a buildup of fluid in the skull (occlusive hydrocephalus). The connection between this feature and other symptoms of congenital plasminogen deficiency is not fully understood.

Inheritance:

The inheritance pattern of this condition is autosomal recessive. This means that both copies of the relevant gene in each cell must carry mutations for the condition to manifest. Individuals with autosomal recessive disorders inherit one copy of the mutated gene from each parent, who are carriers of the mutation but typically do not exhibit symptoms of the condition.