The afflictions of Henri de Toulouse-Lautrec

24 November 2014 marks the 150
th anniversary of the birth of Henri de Toulouse-Lautrec, in the town of Albi in the Midi-Pyrenees region of France. He is, of course, famous as a post-impressionist artist, but was also a printmaker, illustrator and draughtsman. Lautrec was descended from two aristocratic French families, dating back to the Crusades, who had lived in the south of France for centuries. The families, as was common in the French aristocracy, frequently intermarried. Lautrec’s grandmothers were sisters, and his parents, therefore, were first cousins.

Parental consanguinity of this type frequently leads to congenital deformities, as the risk of any recessive genes being passed on is increased. In fact three of Lautrec’s first cousins suffered from dwarfism, with severe deformities, either relying on crutches, or not walking at all. Their parents were the sister of Lautrec’s father, married to her cousin, his mother’s brother. This consanguinity almost certainly contributed to the array of physical disabilities which make Lautrec’s image instantly recognisable. There has been much debate as to their cause, with the consensus nowadays being pycnodysostosis, a hereditary autosomal recessive condition caused by a deficiency of the enzyme cysteine protease in the osteoclasts of the bones. The deficiency has the effect of reducing normal bone resorption, causing incomplete bone matrix decomposition. This leads to a decrease in bone quality and increased brittleness. The distal phalanges of the fingers undergo acro-osteolysis (fragmentation and re-absorption), causing them to be unusually short. Another characteristic of the disease is incomplete closure of the fontanelles of the skull.

Retrospective diagnosis of Lautrec’s condition cannot be definitive, as no autopsy was performed after his death, his bones were never X-rayed, and there has been no attempt to extract samples from his remains. However, there is enough evidence to suggest with a high level of confidence that this is the condition with which he was afflicted, as he displayed virtually every symptom of pycnodysostosis, including a short stature, with shortened legs, a shortened lower jaw and hooked nose, as well as numerous dental problems. Photographic evidence also shows his shortened distal phalanges, and he had numerous fractures throughout his life, starting with a fractured left femur when he was 13, then a fracture of the right femur a year later. He also suffered excessive salivation, had a speech impediment, and lifelong sinus problems. He had an enlarged skull, and was rarely seen without his famous black hat, which is thought to have been used to cover his incompletely joined fontanelles. Pycnodysostosis is commonly referred to as “Toulouse-Lautrec’s syndrome”.

He threw himself into the Bohemian lifestyle at Montemartre, in Paris, becoming an alcoholic, possibly to alleviate his depression at his disabilities. He died of complications of alcoholism and syphilis, aged 36, on 9 September 1901.

Last updated
The Pharmaceutical Journal, PJ, 6/13 December 2014, Vol 293, No 7839/40;293(7839/40):DOI:10.1211/PJ.2014.20067144

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