Meleda Disease (mel-ĕ-de) is a rare genetic skin disorder that affects the palms, soles, and nails. The spelling of the word is phonetically transcribed as /mɛledə dɪziz/ with the emphasis on the second syllable. The pronunciation of the word emphasizes the short "e" sound in the first syllable, followed by the long "e" sound in the second syllable. The word is often misspelled as "Maleda Disease," but it is important to spell it correctly to ensure proper understanding and communication of this medical condition.
Meleda disease, also known as Meleda palmoplantar keratoderma, is a rare genetic disorder characterized by the thickening of the skin on the palms of the hands and the soles of the feet. It belongs to a group of disorders known as palmoplantar keratodermas, which involve abnormal skin thickening in these regions.
This autosomal recessive inherited disorder typically presents in early childhood and progressively worsens over time. The thickened skin can become yellowish, dry, and brittle, eventually leading to cracks and fissures. In some cases, the nails may also be affected, becoming thickened and discolored.
Aside from the physical symptoms, Meleda disease can also cause functional impairment due to the excessive growth of skin on the palms and soles. This can affect dexterity and movement, making activities such as walking or grasping objects challenging.
Meleda disease is caused by mutations in the SLURP1 gene, which plays a role in skin cell growth and maintenance. This genetic mutation disrupts the normal functioning of the protein produced by the SLURP1 gene, leading to the characteristic skin abnormalities.
While there is no cure for Meleda disease, treatment primarily focuses on managing the symptoms. This may involve regular use of moisturizers, keratolytic agents to soften the skin, and regular removal of excess skin layers. Genetic counseling may also be recommended for affected individuals and their families to understand the inheritance pattern and potential risks of passing on the condition to future generations.
The term "Meleda disease" is derived from the name of the island where it was first described, Meleda (also known as Mljet), which is located in the Adriatic Sea off the coast of Croatia. Meleda disease, also called Mal de Meleda, is a rare genetic disorder that affects the skin and is characterized by thickening of the palms and soles, as well as other skin abnormalities. The name Meleda was used as a reference to the place where the disease was initially observed and documented.