Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C
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چکیده
منابع مشابه
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, 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 کاملPapillon Lefevre syndrome.
Papillon Lefèvre syndrome is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis, and severe periodontal destruction involving both the primary and permanent dentitions. It is transmitted as an autosomal recessive condition and consanguinity of parents is evident in about one-third of cases. Pyogenic liver abscess is an increasingly recognized complication. We r...
متن کامل17. Papillon-Lefevre syndrome
Papillon-Lefevre syndrome is a rare autosomal recessive disorder and is characterized by the diffuse palmoplantar hyperkeratosis with rapid destruction of the periodontal support of both the primary and secondary dentition. Patient is often completely or partially edentulous at the stage of primary (4-5 yrs) and permanent dentition (13-15 yrs). Though, exact etiopathogenesis is unknown; three m...
متن کاملPapillon-lefevre Syndrome.
Five cases of Papillon-Lefevre syndrome occurring in 2 families were seen to have variable clinical features. Two of these cases treated with etretinate showed a good response.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2000
ISSN: 1468-6244
DOI: 10.1136/jmg.37.2.88