منابع مشابه
Periodontal Manifestations in a Patient with Haim-Munk Syndrome
Haim-Munk syndrome is an extremely rare autosomal recessive disorder characterized clinically by palmoplantar hyperkeratosis, aggressive periodontitis with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Consanguinity seems a notable prerequisite. The aim of this study was therefore to report one case of this syndrome and to focus on the perio...
متن کاملHaim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.
Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction. Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a ra...
متن کاملOriginal articles Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C
Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction. Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acroosteolysis, atrophic changes of the nails, and a rad...
متن کاملHaim Munk syndrome: report of two siblings of northern India treated with acitretin.
Haim Munk Syndrome (HMS) is the allelic mutation of exon 6 codon in cathepsin C gene. Here, we present two cases of same family with HMS having all the cardinal features of HMS which includes palmo plantar keratoderma and periodontitis along with arachnodactyly, acroosteolysis, onychogryphosis, and marked osteopenia on hand wrist radiographs. Both the siblings were treated with cotrimoxazole, a...
متن کاملHeterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome
OBJECTIVE In the present study, we have investigated the genetic status of CTSC gene in a HMS subject, who along with her parents belonged to non-Jewish South Indian Dravidian community. MATERIALS AND METHODS Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with CTSC exon specific primers and were analyzed by direct sequencing. RESULTS Sequencing...
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ژورنال
عنوان ژورنال: Journal of Indian Society of Periodontology
سال: 2010
ISSN: 0972-124X
DOI: 10.4103/0972-124x.75919