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-Lefèvre syndrome

[pä′pēyôN′ lə·fev′rə]
Etymology: M.M. Papillon, French dermatologist, 20th century; Paul Lefèvre, French dermatologist, 20th century
an autosomal-recessive disorder occurring between the first and fifth years of life, characterized by palmoplantar keratoderma resembling psoriasis, which may also involve the elbows, knees, tibias, external malleoli, and other areas; ectopic calcifications of the skull; and periodontitis and premature shedding of both the primary and secondary teeth.

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 ?
Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome.
Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients.
Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C.
The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis.
Microbiological and immunohistological findings in a patient with Papillon-Lefevre syndrome.
Leukocyte functions in 2 cases of Papillon-Lefevre syndrome.
Systemic retinoid medication and periodontal health in patients with Papillon-Lefevre syndrome.