Mal de Meleda in an 18-year-old male from a non-consanguineous family: a case report

Mal de Meleda is a rare autosomal recessive palmoplantar keratoderma caused by biallelic mutations in the SLURP1 (Secreted Ly-6/Urokinase-type Plasminogen Activator Receptor Related) gene, which plays a critical role in keratinocyte differentiation and skin barrier integrity. The estimated prevalence is approximately 1 in 100,000, making it an exceedingly rare genodermatosis. The disease is typically observed in consanguineous families, and the clinical onset occurs shortly after birth, following a transgrediens pattern – extending from the palmoplantar surfaces to the dorsal aspects of the hands and feet – along with progrediens progression, with symptoms worsening over time. In addition to causing significant cutaneous disfigurement, the condition can severely impact hand and foot function, thereby compromising the patient’s quality of life.
The authors present an atypical case of Mal de Meleda in an 18-year-old male patient from a non-consanguineous family, presenting with sharply demarcated hyperkeratotic plaques extending from the palms and soles to the dorsal hands and feet. This case highlights the clinical variability of Mal de Meleda and stresses the importance of considering this diagnosis even in the absence of a consanguineous background.