Haim Munk syndrome: Report of two siblings of Northern India treated with acitretin
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منابع مشابه
Haim 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 کاملPeriodontal 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 کاملReview of Two Siblings with Werner's Syndrome: A Case Report
We report the clinical course of two siblings with Werner's syndrome (WS) who were diagnosed and followed at our clinics for 12 years. Initial diagnosis of the first sibling (sister) was at age 20, the second (brother) at 16. At the initial diagnosis, the sister had amenorrhea, muscle atrophy at arms and legs, diabetes mellitus (DM), short stature, bilateral cataracts, genital hypoplasia, osteo...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology, and Leprology
سال: 2011
ISSN: 0378-6323
DOI: 10.4103/0378-6323.77487