An Artist's Genetic Disease

Rather than binge watch a new series, one night we chose an old favorite, the nineteen-fifty-two movie, Moulin Rouge. The famous real-life burlesque nightclub in Paris is equally famous to its customer, the painter, Henri de Toulouse-Lautrec. Henri is a post-impressionist painter among the likes of Van Gogh and Gauguin, who painted the dancers and singers he found in the bohemian subculture. He liked them better than the aristocratic circles he was born into because of his unconventional appearance.

Henri had a full-size torso but short legs, large head, shortened lower jaw, and large tongue. He also had fractures of the long bones and cranio-facial deformities. Henri had pycnodysostosis which wasn't diagnosed until a century later and thus carries his surname of Toulouse-Lautrec Syndrome.

It's a rare hereditary disease from not having enough of the cathepsin K enzyme inside osteoclasts, which interferes with the cell's job of reabsorbing and reforming bone tissue. Disrupting this cycle results in fragile bones and too much buildup of dead bone material which is toxic.

Even so, Henri could have lived a normal lifespan except that he was alcoholic and had tuberculosis, and so he died at age thirty-seven. By the time he died, he had painted and sketched hundreds of works leaving us his contribution to art. But his life also brought awareness to a disease that had yet to be understood.