Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering is a rare genetic disorder characterized by thickening of the skin on the palms and soles of the feet, as well as the formation of blisters on the soles. It is caused by a mutation in the GJB2 gene, which is responsible for the production of a protein called connexin 26. This protein helps to form gap junctions between cells, which are important for the proper functioning of the skin. People with this disorder may also experience itching, pain, and difficulty walking.

The symptoms of Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering include thickening of the skin on the palms and soles, which can lead to painful cracking and fissuring. Blisters may also form on the soles of the feet, which can be painful and lead to infection. Other symptoms may include thickening of the skin on the elbows, knees, and knuckles, as well as nail changes such as ridging and splitting.

The exact cause of Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering is unknown. However, it is believed to be caused by a mutation in the GJB2 gene, which is responsible for the production of a protein called connexin 26. This protein helps to form gap junctions between cells, which are important for the proper functioning of the skin. Mutations in this gene can lead to a decrease in the production of connexin 26, resulting in the development of this condition.

1. Topical treatments: These include topical retinoids, topical corticosteroids, and topical calcipotriol.

2. Systemic treatments: These include oral retinoids, oral corticosteroids, and oral antibiotics.

3. Phototherapy: This involves the use of ultraviolet light to reduce the thickness of the skin.

4. Surgery: This may be necessary to remove thickened areas of skin.

5. Moisturizers: These can help to reduce the dryness and cracking of the skin.

6. Footwear: Wearing shoes that fit properly and provide adequate cushioning can help to reduce the risk of blistering.

1. Family history of the condition
2. Genetic mutation in the GJB2 gene
3. Exposure to certain environmental factors, such as cold temperatures or friction
4. Certain medications, such as anticonvulsants or antibiotics
5. Certain medical conditions, such as diabetes or psoriasis

There is no known cure for Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering. Treatment is focused on managing the symptoms and preventing complications. This may include topical medications such as corticosteroids, retinoids, and emollients to reduce inflammation and improve skin hydration. Oral medications such as antibiotics, antifungals, and antihistamines may also be prescribed to reduce infection and itching. In some cases, surgery may be recommended to remove thickened skin.