By Disease Name > Papillon-Lefevre Syndrome
Papillon-Lefevre Syndrome
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AKA palmoplantar hyperkeratosis and
periodontosis
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autosomal recessive
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(+)
transgradiens
(= extension to dorsal surface, Achilles
’
tendon)
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periodontitis
with severe gingivitis (by early teens most patients have lost all their permanent teeth)
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hyperkeratotic plaques on elbows and knees
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pyogenic infections
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defect = cathepsin
Mal De Meleda
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stocking-glove distribution of the hyperkeratosis similar to Papillon-Lefévre syndrome, but no dental abnormalities
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(+)
transgradiens
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often with associated hyperkeratotic lesions of the groin and axilla