Autosomal dominant cutis laxa is a rare genetic disorder that affects the skin. It is characterized by loose, wrinkled skin that is prone to sagging and stretching. It is caused by mutations in the elastin gene, which is responsible for producing the protein elastin, which helps give skin its elasticity. Symptoms can vary from mild to severe and may include loose skin, wrinkles, sagging skin, joint laxity, and hernias.

The most common symptoms of autosomal dominant cutis laxa include:

-Loose, sagging skin
-Wrinkles
-Thin, fragile skin
-Easy bruising
-Joint hypermobility
-Abnormal facial features
-Hernias
-Abnormalities of the heart, lungs, and other organs
-Intellectual disability
-Growth delays
-Hearing loss
-Vision problems
-Kidney problems
-Gastrointestinal problems
-Respiratory problems

The exact cause of autosomal dominant cutis laxa is unknown. However, it is believed to be caused by mutations in the elastin gene (ELN) or the fibulin-5 gene (FBLN5). Mutations in these genes can lead to a decrease in the production of elastin, a protein that helps give skin its elasticity. Other possible causes include mutations in the genes encoding for the proteins lysyl oxidase and lysyl oxidase-like 1.

1. Topical retinoids: Topical retinoids, such as tretinoin, can help reduce the appearance of wrinkles and improve skin elasticity.

2. Laser treatments: Laser treatments, such as fractional laser resurfacing, can help reduce the appearance of wrinkles and improve skin texture.

3. Dermal fillers: Dermal fillers, such as hyaluronic acid, can help fill in wrinkles and improve skin texture.

4. Botox: Botox injections can help reduce the appearance of wrinkles and improve skin elasticity.

5. Platelet-rich plasma (PRP): PRP injections can help stimulate collagen production and improve skin elasticity.

6. Surgery: Surgery may be recommended in severe cases of cutis laxa to remove excess skin and improve skin elasticity.

1. Genetic mutation: Autosomal dominant cutis laxa is caused by a mutation in the ATP6V0A2 gene.

2. Family history: Individuals with a family history of autosomal dominant cutis laxa are at an increased risk of developing the condition.

3. Age: Autosomal dominant cutis laxa is more common in adults than in children.

4. Gender: Autosomal dominant cutis laxa is more common in males than in females.

5. Ethnicity: Autosomal dominant cutis laxa is more common in individuals of European descent.

At this time, there is no cure for autosomal dominant cutis laxa. However, there are medications that can help manage the symptoms. These include medications to reduce inflammation, such as corticosteroids, and medications to improve skin elasticity, such as retinoids. Additionally, physical therapy and lifestyle modifications, such as avoiding activities that may cause skin trauma, can help manage the condition.