Expanding the Geographic Spectrum: First Documentation of Mal de Meleda in Three Siblings from Pakistan – A Case Series

Abstract

Mal de Meleda (MdM) is a rare autosomal recessive palmoplantar keratoderma caused by SLURP-1 gene mutations. It typically presents in early childhood with waxy, yellowish thickening of palms and soles that may extend to the dorsal surfaces. We report the first familial case series of MdM in Pakistan, involving three female siblings aged 11, 11, and 9 years. All showed varying degrees of transgradient hyperkeratosis, nail changes, and hyperhidrosis. Family history revealed consanguinity and a similarly affected paternal aunt. Based on clinical findings, a diagnosis of MdM was made. Management included topical keratolytics, antibiotics, and in one case, systemic therapy. This series underscores the phenotypic variability of MdM, emphasizes the diagnostic value of family history, and contributes to the expanding geographic understanding of this genodermatosis.