Meleda disease

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Meleda Disease

Meleda Disease (pronunciation: meh-LEH-dah disease), also known as Mal de Meleda or Keratosis palmoplantaris transgrediens of Siemens, is a rare, autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma.

Etymology

The term "Meleda" is derived from the island of Mljet (also known as Meleda) in Croatia, where the disease was first described in 1826. The term "Keratosis palmoplantaris transgrediens" refers to the progressive nature of the keratoderma, which extends beyond the palms and soles.

Symptoms

The primary symptom of Meleda Disease is keratoderma, a thickening of the skin on the palms of the hands and the soles of the feet. This keratoderma often begins in infancy and progressively worsens, often extending to the dorsal surfaces of the hands and feet. Other symptoms may include hyperhidrosis (excessive sweating), nail dystrophy, and lichenification (thickening and hardening of the skin).

Causes

Meleda Disease is caused by mutations in the SLURP1 gene, which provides instructions for making a protein that is found in the skin. This protein plays a role in the growth and differentiation of skin cells.

Diagnosis

Diagnosis of Meleda Disease is based on the characteristic clinical features and confirmed by genetic testing to identify mutations in the SLURP1 gene.

Treatment

There is currently no cure for Meleda Disease. Treatment is symptomatic and may include the use of emollients and keratolytics to manage the keratoderma, and antiperspirants to manage hyperhidrosis.

See Also

External links

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