Mal de Meleda: A Focused Review

Caroline Perez; Amor Khachemoune


Am J Clin Dermatol. 2016;17(1):63-70. 

In This Article


Mal de Meleda is a rare AR disease caused by a mutation affecting the SLURP-1 protein. Mal de Meleda should be considered in the differential diagnosis for patients with early-onset progressive and transgredient PPK. A phenotypically milder PPK in the Swedish population, historically referred to as Gamborg-Nielsen type, was recently noted to be caused in most cases by a known SLURP-1 mutation, which supports the notion that there is phenotypic variability of Mal de Meleda. Management of the disease tends to revolve mostly around oral retinoid products as well as topical keratolytic therapy. There is evidence that TNF-α plays a role in the inflammatory aspect of the disease but we were unable to find any studies regarding the use of biologic or other immunomodulatory therapies in Mal de Meleda, though this may be a topic of interest for future research.