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Genetic mapping in papillon-lefèvre syndrome: a report of two cases.

[papillon-lefèvre syndrome]

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater. The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. Recently identified genetic defect in PLS has been mapped to chromosome 11q14-q21, which involves mutations of cathepsin C. This paper presents a report of 2 cases of Papillon-lefevre syndrome in which diagnosis is based on clinical presentation and genetic mapping.

Diseases presenting "associated calcification of dura mater. the etiology" symptom

  • papillon-lefèvre syndrome

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