One night, instead of binge watching a new series, we watched an old favorite movie, the 1952 production of “Moulin Rouge.” The movie was based on a novel written by Pierre La Mure in 1950.
In the late 19th century, the painter Henri de Toulouse-Lautrec was living a bohemian life in Paris and frequenting the famous burlesque night club, the Moulin Rouge, where he sketched the people he met. The movie made me wonder what disease had afflicted Henri.
In the movie, his 4-foot-10 stature was explained by a fall down a flight of stairs, which broke his legs. The movie claims that he failed to heal because of a genetic “weakness” he inherited from his parents, who were first cousins.
We know that he broke his left femur in 1878 at age 13 and his right femur the next year, but the fall down the staircase is fiction. The likely disease couldn’t be diagnosed at the time. It was first described in 1954, and in 1962 it was named pycnodysostosis, but it has retained its other name, Toulouse-Lautrec Syndrome.
Henri Lautrec was the eldest son of the Count of Toulouse-Lautrec and the heir to the title. Henri couldn’t marry a person of his rank, and with his agreement at age 18, the count bestowed the title on his elder sister. He was interested in sports and riding as a child, but his physical limitations led him to devote himself to art.
As an adult, he produced 737 paintings, 275 watercolors and 369 prints and posters, as well as sculptures, ceramics and stained-glass windows. While living in Paris, he slowly sank into alcoholism, and he also suffered from syphilis and tuberculosis. He died at age 36.
The disease that likely led to Henri’s physical deformities, pycnodysostosis, is a hereditary disease caused by a deficiency in the cathepsin K enzyme in cells called osteoclasts. Osteoclasts are the only bone reabsorbing cells in the body.
This deficiency makes bones fragile, and they degrade over time. We think of bone as solid and unchangeable, but bone is continuously broken down and reformed. In pycnodysostosis, some of these bone breakdown products build up and become toxic to affected cells and tissues of the body. The defect is rare, affecting about 1 in 1.7 million people.
Despite the tale of Henri’s broken legs triggering his disease in the movie, it was likely a disease he was born with. His broken legs likely healed properly, but they were unusually short. The rest of Henri’s features fit the description of those with pycnodysostosis: large head, short lower jaw, dental issues, large tongue and hearing problems.
Patients tend to have short stature but normal intelligence and normal life spans. There are some treatments available today but no standardized approach. Certainly, none of the therapies were available to Henri.
We will never know for sure what afflicted Henri, as there are no X-rays, no autopsy reports and no DNA evidence, only pictures and written reports.
Medical Discovery News is hosted by professors Norbert Herzog at Quinnipiac University, and David Niesel of the University of Texas Medical Branch. Learn more at www.medicaldiscoverynews.com.