Mal de Meleda
Mal de Meleda is a rare, inherited skin disorder characterized by the thickening and hardening of the skin on the palms of the hands and soles of the feet.
Overview
Mal de Meleda is a form of palmoplantar keratoderma that begins in early infancy. The condition causes the skin on the palms and soles to become thick, hard, and callused. This thickening often extends to the back of the hands and feet, as well as the wrists and ankles.
Symptoms
- Skin thickening: Rough, thick pads may appear on the joints of fingers and toes, as well as on elbows and knees.
- Infections: Recurrent fungal infections in the thickened skin are common and can cause a strong odor.
- Other features: Potential symptoms include short fingers and toes (brachydactyly), nail abnormalities, red skin around the mouth, and excessive sweating (hyperhidrosis).
Causes
The disorder is caused by mutations in the SLURP1 gene. This gene provides instructions for making the SLURP-1 protein, which acts as an epidermal neuromodulator. The protein binds to nicotinic acetylcholine receptors (nAChRs) in the skin to help control the growth, maturation, and survival of skin cells. A lack of this protein is thought to alter gene activity, leading to the overgrowth of skin cells and subsequent skin thickening.
Inheritance
Mal de Meleda is inherited in an autosomal recessive pattern. This means that an affected individual must have two mutated copies of the gene—one inherited from each parent. Parents of an affected individual typically carry one mutated copy but do not show symptoms of the condition.
