Papillon-Lefevre syndrome


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Related to Papillon-Lefevre syndrome: Papillon-Lefèvre syndrome

Pa·pil·lon-Le·fèv·re syn·drome

(pah-pē-on[h]' le-fĕv), [MIM*245000]
a congenital hyperkeratosis of the palms and soles, with progessive destruction of alveolar bone about the deciduous and permanent teeth beginning as early as 2 years of age, and also with premature exfoliation of teeth and calcification of the falx cerebri; autosomal recessive inheritance.

Papillon-Lefevre syndrome

An autosomal recessive (OMIM:245000) condition characterised by palmoplantarkeratosis (less commonly, of the elbow and knee) ranging from mild psoriasiform scaling to overt hyperkeratosis, as well as severe periodontitis affecting deciduous and permanent dentition, resulting in premature tooth loss.

Molecular pathology
Defects in CTSC, which encodes cathepsin C, a ubiquitous lysosomal cysteine proteinase, cause Papillon-Lefevre syndrome.

Lefèvre,

Paul, 20th century French dermatologist.
Papillon-Lefèvre syndrome - see under Papillon

Papillon,

M.M., 20th century French dermatologist.
Papillon-Lefèvre syndrome - a congenital hyperkeratosis of the palms and soles, with progressive destruction of alveolar bone about the deciduous and permanent teeth.

Pa·pil·lon-Le·fèv·re syn·drome

(papē-ōn[h] lĕ-fev sindrōm) [MIM*245000]
Congenital hyperkeratosis of palms and soles, with progessive destruction of alveolar bone about deciduous and permanent teeth beginning as early as 2 years of age, and premature exfoliation of teeth and calcification of falx cerebri.
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References in periodicals archive ?
Periodontal treatment of patients with Papillon-Lefevre syndrome: A 3-year follow-up.
Papillon-Lefevre syndrome: case series and review of literature.
Early diagnosis and treatment options for the periodontal problems in Papillon-Lefevre syndrome: A literature review.
Papillon-Lefevre syndrome: Case report and review of the literature.
Localization of a gene for Papillon-Lefevre syndrome to chromosome 11q14-q21 by homozygosity mapping.
Behavior of neutrophilic granulocytes in a case of Papillon-Lefevre syndrome. J Clin Periodontol.
Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefevre syndrome. J Am Acad Dermatol.
Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefevre syndrome. Dermatology.
Suggested mode of periodontal therapy for patients with Papillon-Lefevre syndrome. Periodontal Case Rep 1981;3:10 .
A possible late onset variation of Papillon-Lefevre syndrome: report of 3 cases.
Late onset Papillon-Lefevre syndrome? A chromosomic, neutrophil function and microbiological study.
Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefevre syndrome. J Periodontol 2005;76:2322-2329.