About Dermochondrocorneal dystrophy

What is Dermochondrocorneal dystrophy?

Dermochondrocorneal dystrophy is a rare genetic disorder that affects the skin, eyes, and bones. It is characterized by thickening of the skin on the palms and soles, corneal clouding, and skeletal abnormalities. Symptoms may include dry, scaly skin, vision problems, and joint pain. Treatment typically involves medications to reduce inflammation and improve vision, as well as surgery to correct skeletal abnormalities.

What are the symptoms of Dermochondrocorneal dystrophy?

The symptoms of Dermochondrocorneal dystrophy include:

-Corneal clouding
-Corneal opacities
-Corneal vascularization
-Corneal thinning
-Corneal scarring
-Corneal ulceration
-Corneal perforation
-Corneal neovascularization
-Corneal edema
-Corneal ectasia
-Corneal dystrophy
-Corneal degeneration
-Corneal deposits
-Corneal ectropion
-Corneal ectasia
-Corneal vascularization
-Corneal thinning
-Corneal scarring
-Corneal ulceration
-Corneal perforation
-Corneal neovascularization
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What are the causes of Dermochondrocorneal dystrophy?

Dermochondrocorneal dystrophy is a rare genetic disorder caused by mutations in the KRT12 gene. It is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for a person to be affected by the condition.

What are the treatments for Dermochondrocorneal dystrophy?

The primary treatment for Dermochondrocorneal dystrophy is corneal transplantation. This is a surgical procedure in which the damaged cornea is replaced with a healthy donor cornea. Other treatments may include medications to reduce inflammation, antibiotics to prevent infection, and lubricating eye drops to keep the eyes moist. In some cases, laser surgery may be used to improve vision.

What are the risk factors for Dermochondrocorneal dystrophy?

1. Genetic predisposition: Dermochondrocorneal dystrophy is an inherited disorder caused by mutations in the KRT12 gene.

2. Age: The condition is more common in adults, although it can occur at any age.

3. Gender: Dermochondrocorneal dystrophy is more common in males than females.

4. Ethnicity: The condition is more common in people of Asian descent.

Is there a cure/medications for Dermochondrocorneal dystrophy?

Unfortunately, there is no cure for Dermochondrocorneal dystrophy. However, there are medications that can help manage the symptoms. These include topical lubricants, antibiotics, and anti-inflammatory medications. Surgery may also be recommended in some cases.