What Is Dupuytren's?
Dupuytren's Disease is a benign condition which affects millions of Americans resulting in progressive and sometimes crippling hand deformities. There is currently no cure.
How do you pronounce the name "Dupuytrens"? Dupuytren is a French surname, and the closest approximation for the American English pronunciation is doo-pa-trens, with the accent or emphasis on the first syllable "doo". Although some pronounce the name Dupuy as doo-poo-wee, this does not apply to the name Dupuytren.
What is Dupuytren's disease? Dupuytren's contracture is a benign condition which causes a tightening of the flesh beneath the skin of the palm and can result in permanently bent fingers. There is a sheet of tissue just under the skin of the palm which is stuck to the undersurface of the skin of the palm. This layer, called fascia, reinforces the skin of the palm. The fascia looks like cloth, and has fine threads which run lengthwise from the palm into the fingers. Dupuytren's disease makes these lengthwise threads shrink, and they can become too short to let the fingers straighten all the way. Trying to straighten the fingers pulls the threads taut, and they feel like a string under the skin, called a cord. The taut cord holds the fingers bent like the string on a bow. The cord may feel like a tendon, but it is actually between the tendon and the skin. There are more common reasons for people to develop bent fingers, including arthritis, trigger finger, or the after effects of injury or reflex sympathetic dystrophy - but these conditions are not Dupuytren's disease and are treated differently.
The problem with finding a cure for Dupuytren's is that the basic biology is very similar to the normal biology of wound healing, and so most medications which would be potent enough to work are fairly toxic. We need a very specific intervention to affect the Dupuytren's in a safe way, and genetic analysis is the straightest course to do this, avoiding the need for trial and error.