Karotenodiem

Karotenodiem is a rare genetic disorder characterized by the inability to metabolize beta-carotene, a type of carotenoid found in many fruits and vegetables. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the disorder. The primary symptom of karotenodiem is the accumulation of beta-carotene in the skin, leading to a yellowish discoloration, particularly in the palms of the hands and soles of the feet. This discoloration is often mistaken for jaundice, but it is not related to liver function.

The exact prevalence of karotenodiem is unknown, but it is considered to be very rare. The condition was first described in 1968 by a group of researchers in Japan. The disorder is caused by mutations in the CRABP2 gene, which encodes for cellular retinol-binding protein 2. This protein is responsible for transporting beta-carotene within cells.

There is currently no specific treatment for karotenodiem. Management focuses on preventing skin damage and maintaining overall health. This may include avoiding excessive sun exposure, using sunscreen, and wearing protective clothing. In severe cases, surgical removal of the affected skin may be necessary. Individuals with karotenodiem should be aware of the potential risks associated with their condition and take appropriate precautions to protect their skin.