How is Mal de Meleda diagnosed?

Mal de Meleda is a rare genetic disorder that affects the skin, specifically the palms of the hands and soles of the feet. It is characterized by thickening of the skin in these areas, which can lead to various symptoms and complications. Diagnosing Mal de Meleda typically involves a combination of clinical examination, family history assessment, and genetic testing.

Clinical examination: A dermatologist or a healthcare professional specializing in skin disorders will carefully examine the affected areas of the skin. They will look for specific signs and symptoms, such as hyperkeratosis (thickening of the outer layer of the skin), erythema (redness), and transgrediens (spreading of the skin changes).

Family history assessment: Since Mal de Meleda is an inherited disorder, it is important to evaluate the patient's family history. The healthcare provider will inquire about any known cases of Mal de Meleda or similar skin conditions in the family. This information helps in determining the likelihood of a genetic cause.

Genetic testing: To confirm the diagnosis of Mal de Meleda, genetic testing is often performed. This involves analyzing the patient's DNA to identify any mutations or changes in specific genes associated with the disorder. The most common gene involved in Mal de Meleda is ARS (SLURP1) gene. Genetic testing can be done through a blood sample or a cheek swab.

It is important to note that the diagnosis of Mal de Meleda can be challenging due to its rarity and similarity to other skin conditions. Therefore, it is crucial to consult with a healthcare professional experienced in diagnosing and managing rare skin disorders.