Mal de Meleda is a rare genetic disorder that affects the skin. It is characterized by thickening and scaling of the skin on the palms of the hands and soles of the feet. This condition is typically present from birth or develops in early childhood.
Mal de Meleda is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. The specific gene mutation responsible for this condition is known as SLURP1.
The symptoms of Mal de Meleda can vary in severity, but typically include hyperkeratosis (excessive skin thickening), erythema (redness), and a distinctive odor. The thickened skin can cause difficulties with gripping objects and walking.
Treatment for Mal de Meleda focuses on managing the symptoms and preventing complications. This may involve regular moisturizing, keratolytic agents to reduce skin thickening, and physical therapy to improve hand and foot function.
While Mal de Meleda is a chronic condition, with proper management, individuals with this disorder can lead fulfilling lives.