Mal de Meleda: A Focused Review

Caroline Perez; Amor Khachemoune


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

In This Article

New Findings

Adeyo et al.[70] show that SLURP-1 deficiency produces neuromuscular disorders in SLURP-1 knockout mice, in addition to the known cutaneous manifestations. This finding suggests that the SLURP-1 mutation in Mal de Meleda may be somehow localized to the epidermis or, alternatively, that there may be other phenotypic manifestations of Mal de Meleda not yet described. This study also elaborated on the pathophysiology behind the malodorous nature of skin in Mal de Meleda. First, the authors suggest that there is a compromised water barrier in the stratum granulosum, which allows fluid to seep into the stratum corneum. Secondly, there are findings that SLURP-1 is directly or indirectly involved in lipid hydrolysis, so when SLURP-1 is inactivated, this allows for increased neutral lipids in the stratum corneum. The combination of neutral lipid and fluid infiltrate creates an ideal medium for microorganism growth.[70]

In the last decade, Turgut et al.[71] have studied whether there are variations in essential elements in patients with Mal de Meleda versus healthy controls to identify whether elemental supplementation may be beneficial in treatment of the disease. The results of this study, however, show no significant difference in serum zinc, iron, copper, cadmium, or lead levels between Mal de Meleda patients and controls. Moreover, the tested levels of zinc and copper in the nails and hair of Mal de Meleda patients did not vary.[71]