Dermochondrocorneal Dystrophy

Background and History: 

Jules Fran?ssois, a Belgian ophthalmologist described this disorder in 1949.  Only a few cases have been reported since that time.

Clinical Correlations: 

Skin and joint lesions often appear in the first decade of life and shortly thereafter drop-like deposits are seen in the cornea.  Nodules often form in the ears, nose, and over the elbows and finger and toe joints.  They are usually small causing primarily cosmetic problems but sometimes result in limitations to joint motion.  Nodules and excessive tissue may also appear in the gums and lining of the mouth causing bleeding problems.

The deposits in the cornea are accompanied by a general haziness and can significantly interfere with vision.


Nothing is known about the inheritance of this disorder although familial cases have been reported.

Diagnosis and Prognosis: 

Dermatologists, ophthalmologists, and dentists may be consulted for the diagnosis.  Laser treatment has been reported to successfully remove the skin lesions but oral surgery is required for lesions in the mouth.  Corneal transplants may be useful in restoring vision.