Bart syndrome

I just came across a disease called Bart syndrome which may very well be the strangest disorder I have heard of to this day. It is a genetic condition that makes the fetus not grow skin in certain areas of the body, causes blistering and scarring where skin is actually present and nail abnormalities. Usually the baby's feet below the ankle or hands will have a thin membrane over the flesh but will be missing skin layers. Blisters tend to appear around and inside the mouth and on the belly, shoulders or even head. It is an autosomal dominant disorder, which means that both parents have to be carriers of the mutant version of the gene in order to transmit it to the baby. The difference is in the gene that makes Collagen Type VII on exon 73 of chromosome 3, where a Guanine nucleotide becomes an Adenine nucleotide. This changes the normal Glycine amino acid into an Arginine which alters the structure of the anchoring fibrils that hold tissue together. The feet and hands are the parts of the body where this anchoring is most important so they tend to display the condition.

So when a baby is born with the Bart syndrome he or she will need to wear a sterile dressing around the problematic area with a saline and antibiotic ointment that needs to be changed daily to prevent infections, very gently otherwise bleeding will occur. This is currently the only way to manage the disease. In some cases even with the dressing the digits tend to fuse together and the hands and feet lose their structure.  Luckily Bart syndrome occurs in only 1 in a million babies, but still, a very strange condition.

Until next time,
A.M.D