“This rare skull-thickening disease led to a 3-D-printed replacement
Last week a Dutch hospital announced that it had removed the entire top of a woman’s skull and replaced it with a plastic implant, custom-made using a 3-D printer. The story, with a video (below) and amazing photos of the 22-year-old woman’s delicate pink brain encased in a thin piece of clear plastic, went viral immediately.
But what I wanted to know, and couldn’t find in any of the reports, was what condition could make a person’s skull grow 5 centimeters (2 inches) thick, which made the surgery necessary.
There are several bone-thickening diseases that were possible contenders, sparking some initial speculation among science writers on Twitter: Could it be melorheostosis? Osteopetrosis, fibrous dysplasia?
But this one would be a stumper for anyone but Dr. Gregory House, or a Dutch geneticist. So I asked the hospital where the surgery was performed, UMC Utrecht in the Netherlands, and learned that the woman has van Buchem disease, a rare condition found almost entirely among small pockets of closely related Dutch people. The disease, formally called hyperstosis coricalis generalisata, was first described in 1955 by Dutch physician Frans van Buchem. Patients had thickened skulls and jaws, giving them a distinctive appearance, as well as thicker ribs and long bones. It was soon clear that the condition was passed down in families. Thirteen more cases turned up in the 1960s and ’70s, all in people living in a small Dutch village. In 2013, researchers were able to find 18 Dutch people with the condition.”
Read the full story at: https://www.sciencenews.org/blog/gory-details/rare-skull-thickening-disease-led-3-d-printed-replacement