نتایج جستجو برای: papillon lefevre syndrome
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Papillon-Lefevre syndrome (PLS) is a very rare genetic syndrome, and fewer than 500 cases have been reported in the world. Patients exhibit typical cutaneous involvement with hyperkeratosis, especially on the soles and palms, and early shedding of primary teeth. Internal organ involvements, such as liver abscesses, have been described in case reports. This communication represents the first tim...
Papillon Lefevre syndrome is an extremely rare autosomal recessive disorder characterized by diffuse palmoplantar hyperkeratosis, rapidly progressive and devastating periodonitis, pyodermas. The etiopathogenesis of the multifactorial, with genetic immunological factors playing a major role. Consanguinity contributing factor. Genetic mutations gene 11q14- q21 encoding for cathepsin-c, lysosomal ...
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