Papillon-Lefevre syndrome

(redirected from keratosis palmoplantaris with periodontopathia)

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.
Farlex Partner Medical Dictionary © Farlex 2012

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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.
Medical Eponyms © Farlex 2012

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.
Medical Dictionary for the Dental Professions © Farlex 2012
Mentioned in ?
Full browser ?