dermochondrocorneal dystrophy

Dermochondrocorneal dystrophy is a rare condition that affects the bones, eyes, and skin. It is marked by unusual bone development (osteochondrodystrophy) in the hands and feet, changes in the cornea (the clear front part of the eye), and the appearance of skin nodules in clusters near the finger joints, as well as around the nose, ears, and elbows. Gingival lesions (affecting the gums) may also be seen in some cases. This condition has been reported in less than 20 patients and follows an autosomal recessive pattern of inheritance, meaning that a child needs to inherit affected genes from both parents to show signs of the disorder. The features of the disease are based on clinical reports, and information remains limited due to the rarity of the condition.

People with this condition often experience abnormalities in the hands and feet due to unusual bone development. They may also have a cloudy appearance or other changes in the cornea along with clusters of small skin nodules located on the joints, nose, ears, and back of the elbows. Some affected individuals may also have lesions on their gums.

Dermochondrocorneal dystrophy is caused by genetic factors. It is inherited in an autosomal recessive manner, which means a person must receive one copy of the altered gene from each parent for the condition to develop.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.