Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients
نویسندگان
چکیده
منابع مشابه
Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.
INTRODUCTION Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar keratoderma and severe, early onset periodontitis, which results from deficiency of cathepsin C activity secondary to mutations in the cathepsin C gene. To date, 13 different cathepsin C mutations have been reported in PLS patients, all of which are homozygous for a given mutation, refl...
متن کاملManagement of Papillon Lefevre Syndrome
It is a rare, autosomal recessive disorder occurring between the f irst and fi f th years of l i fe and is characterized by palmoplantar keratoderma and periodontitis fol lowed by the premature shedding of both primary and permanent teeth. The teeth are affected in the order of their eruption, exhibiting inflammation of the periodontal tissue, bleeding of the gums, pocket formation, loosening o...
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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...
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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.37.12.927