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Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype
Author(s) -
Rai Reena,
Thiagarajan S.,
Mohandas Soumya,
Natarajan Karthika,
Shanmuga Sekar C.,
Ramalingam S.
Publication year - 2010
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/j.1365-4632.2010.04300.x
Subject(s) - medicine , exon , genetics , phenotype , allele , cathepsin c , point mutation , mutation , gene , cathepsin d , biology , enzyme , biochemistry
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.