Haim–Munk Syndrome with Cathepsin C Gene Mutation in an Adult from Western India

Haim–Munk syndrome (HMS) is an uncommon autosomal recessive condition characterized by germline mutations in the lysosomal protease cathepsin C (CTSC) gene, which is also implicated in disorders such as Papillon–Lefèvre syndrome and prepubertal periodontitis. We report the case of a 31-year-old male, born out of second-degree consanguineous marriage, presenting with palmoplantar keratoderma, severe periodontitis, onychogryphosis, and psoriasiform plaques. Whole exome sequencing confirmed the diagnosis of HMS, identifying a missense homozygous mutation in the CTSC gene on exon 1 of chromosome 11. This report contributes to the limited literature on HMS, emphasizing the phenotypic variability, need for thorough clinical evaluation, and the comprehensive approach to its diagnosis and care.