Haim–Munk Syndrome with Cathepsin C Gene Mutation in an Adult from Western India
Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: Clinical Dermatology Review
Institution: B. J. Medical College & Sassoon Hospital
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4412069706