Autosomal recessive epidermolytic ichthyosis (ARCI) is a rare genetic skin disorder that is characterized by thick, scaly skin. It is caused by mutations in the keratin 1 or keratin 10 genes, which are responsible for producing proteins that form the structural framework of the skin. Symptoms of ARCI usually appear at birth or in early infancy and include red, scaly skin that is prone to blistering and infection. Treatment typically involves topical medications and moisturizers to help reduce the symptoms.

The symptoms of Autosomal recessive epidermolytic ichthyosis (ARCI) include:

-Thick, scaly skin that is red and inflamed
-Dry, cracked skin
-Blisters and sores on the skin
-Thickening of the palms and soles of the feet
-Thickening of the scalp
-Thickening of the eyelids
-Thickening of the lips
-Thickening of the nose
-Thickening of the ears
-Thickening of the neck
-Thickening of the armpits
-Thickening of the groin area
-Thickening of the elbows and knees
-Thickening of the knuckles
-Thickening of the toes and fingers
-Thickening of the fing

Autosomal recessive epidermolytic ichthyosis (ARCI) is caused by mutations in the keratin 1 (KRT1) or keratin 10 (KRT10) genes. These genes provide instructions for making proteins that are found in the outer layer of the skin (the epidermis). These proteins are part of a family of proteins called keratins, which are important for forming a strong and resilient skin barrier. Mutations in the KRT1 or KRT10 genes lead to the production of abnormal keratin proteins, which disrupt the structure and function of the skin barrier. This disruption causes the signs and symptoms of ARCI.

1. Topical treatments: These include moisturizers, emollients, and topical steroids to reduce inflammation and itching.

2. Systemic treatments: These include oral retinoids, such as acitretin, to reduce scaling and improve skin texture.

3. Phototherapy: This involves exposing the skin to ultraviolet light to reduce scaling and improve skin texture.

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

5. Gene therapy: This is a new and experimental treatment that involves introducing a healthy gene into the skin cells to replace the mutated gene that causes the condition.

1. Family history of Autosomal recessive epidermolytic ichthyosis
2. Genetic mutations in the keratin 1 or keratin 10 genes
3. Being of Middle Eastern or Mediterranean descent
4. Being of African descent
5. Being of South Asian descent
6. Being of East Asian descent

At this time, there is no cure for autosomal recessive epidermolytic ichthyosis. However, there are medications and treatments available to help manage the symptoms. These include topical creams and ointments to help keep the skin moisturized, antibiotics to help prevent infection, and retinoids to help reduce scaling. In some cases, laser treatments may be used to reduce the appearance of scarring.