SNP Shot: Genomic Insights

Mal de Meleda is a very uncommon skin disease that appears in infancy. People with this condition develop palmoplantar keratoderma, where the skin on their palms and soles becomes abnormally thick, hard, and calloused. In mal de Meleda specifically, this thickened skin also extends to the back of the hands and feet, as well as the wrists and ankles. Further, individuals may develop hard, rough pads on their finger and toe joints, and also on their elbows and knees. Some individuals affected by mal de Meleda experience recurring fungal infections within the thickened skin, sometimes causing a noticeable odor. Other possible symptoms include unusually short fingers and toes (brachydactyly), abnormal nails, redness around the mouth, and excessive perspiration (hyperhidrosis).

Inheritance:

The inheritance pattern for this disorder is autosomal recessive. This means that both copies of the relevant gene within a person's cells must have mutations for the condition to develop. Individuals with autosomal recessive conditions inherit one mutated copy of the gene from each parent. The parents, who each carry only one copy of the mutated gene, usually do not display any symptoms of the condition themselves.