Mal de Meleda: A late-diagnosed family with a pathogenic variant not reported from Turkey

• Published in: Türkderm Vol. 55; no. 1; pp. 41 - 44
• Main Authors: Karaca, Zeynep, Yaylı, Savaş, Bahadır, Sevgi
• Format: Journal Article
• Language: English
• Published: Deri ve Zührevi Hastalıklar Derneği 01.03.2021; Galenos Publishing House
• Subjects: autosomal recessive diseases; mal de meleda; palmoplantar keratoderma; rare diseases; slurp1; Tıp; İstanbul; Türkiye; rare diseases; autosomal recessive diseases; Mal de Meleda; otozomal resesif hastalıklar; nadir hastalıklar; palmoplantar keratoderma; SLURP1

Mal de Meleda (MDM), also called keratoderma palmoplantaris transgrediens, is a rare autosomal recessive palmoplantar keratoderma with an estimated prevalence of 1:100,000. Genetic mutations affecting SLURP-1 play a role in MDM. It typically starts shortly after birth and is characterized by hyperke...