By Disease Name > Papillon-Lefevre Syndrome

Papillon-Lefevre Syndrome

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AKA palmoplantar hyperkeratosis and periodontosis
autosomal recessive
(+) transgradiens (= extension to dorsal surface, Achilles tendon)
periodontitis with severe gingivitis (by early teens most patients have lost all their permanent teeth)
hyperkeratotic plaques on elbows and knees
pyogenic infections
defect = cathepsin

 

hmtoggle_plus1Mal De Meleda
stocking-glove distribution of the hyperkeratosis similar to Papillon-Lefévre syndrome, but no dental abnormalities
(+) transgradiens
often with associated hyperkeratotic lesions of the groin and axilla