Constellation, le dépôt institutionnel de l'Université du Québec à Chicoutimi

Résumé

Mal de Meleda (MDM) is a rare autosomal recessive palmoplantar keratoderma (PPK). It is characterized by erythema and transgressive PPK that appears soon after birth and progressively extends to the dorsal aspects of the hands. MDM was originally described in patients from Mljet/Meleda almost 200 years ago. Since then, patients with MDM were also described in more widespread regions, including the Mediterranean area, and Middle and East Asia. MDM is caused by mutations in the SLURP1 gene encoding the SLURP1 protein. SLURP1 enhances the function of the nicotinic acetylcholine receptor a7 in epidermal keratinocytes eliciting proapoptotic activity and differentiation. To date, only 14 SLURP1 mutations were described in the literature. The p.G86R loss-of-function mutation has been reported in patients from Taiwan, Palestine, Pakistan, Korea, and Turkey. In this report, we further describe this variation in a family of Libyan descent (North Africa), which would have important consequences for genetic counseling to individuals of Libyan origin whose relatives are MDM affected.