Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype.

Abstract

Papillon-Lefevre syndrome and Haim Munk syndrome are palmoplantar keratodermas associated with premature periodontal destruction. The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. Both are associated with mutations in the lysosomal protease cathepsin C. We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C.

• Authors: Reena Rai, S Thiagarajan, Soumya Mohandas, Karthika Natarajan, C Shanmuga Sekar, S Ramalingam
• Journal: International journal of dermatology (Int J Dermatol) Vol. 49 Issue 5 Pg. 541-3 (May 2010) ISSN: 1365-4632 [Electronic] England
• PMID: 20534088 (Publication Type: Case Reports, Journal Article)

Chemical References

• Cathepsin C

Topics

• Adult
• Alleles
• Cathepsin C (genetics)
• Exons (genetics)
• Humans
• Male
• Papillon-Lefevre Disease (diagnostic imaging, genetics, pathology)
• Point Mutation
• Radiography