Dermochondrocorneal Dystrophy

Dermochondrocorneal dystrophy, also known as Francois syndrome, is a rare familial disease initially described by Belgian ophthalmologist Francois in 1949. The condition is characterized by a triad of abnormalities that affect the extremity bones, skin, and cornea. Francois observed two siblings aged 11 and 12 with the syndrome, manifesting in both children by symmetrical dystrophic changes in the bones, skin, and eyes (Bierly et al. 1992). The skin nodules appear similar to xanthomas on the ears and interphalangeal joints. Tendinous contractures and subluxations characterize osteochondral deformities. The presence of white or brownish opacities in the cornea, known as corneal dystrophy, can eventually lead to vision impairment (Hidalgo-Bravo et al. 2016). Dermochondrocorneal dystrophy is an extremely rare disorder with only a few cases reported.