title: [Papillon-Lefèvre syndrome: A new case].
abstract: Papillon-Lefèvre syndrome (PLS) is a rare primary immunodeficiency, which combines severe periodontal disease with edentulism and palmoplantar keratosis (PPK). PLS is inherited as an autosomal recessive trait and is due to mutations in the cathepsin C gene. The biological properties of the neutrophils (PN) are altered, leading to a gingival dysbiosis and bacterial overgrowth, with intense inflammation of the periodontium. We report the observation of a 4-year-old girl who presented to the clinic with gingivitis, partial edentulism, and PPK, whose diagnosis, raised after a long delay, was suggested by null cathepsin C activity and confirmed by the presence of heterozygous mutations in exon 4: c.628C>T, pArg210* and in exon 7: c.1286G>A, p.Trp429*. A multidisciplinary approach transformed the functional and esthetic prognosis and psychological behavior of this child. This classical observation describes this poorly known phenotype.
authors.affiliation: Unité d'immunohématologie et oncologie pédiatrique, hôpital Nord, CHU de Saint-Étienne, avenue Albert-Raymond, 42055 Saint-Étienne, France. Electronic address: martinho.stephanie26@gmail.com.
authors.forename: S
authors.initials: S
authors.lastname: Martinho
authors.affiliation: Laboratoire de biochimie et métabolique, institut fédératif de biologie, CHU de Toulouse, 330, avenue de Grande-Bretagne, 31059 Toulouse, France.
authors.forename: T
authors.initials: T
authors.lastname: Levade
authors.affiliation: Laboratoire MRGM, Inserm U1211, service de génétique médicale, CHU de Bordeaux, université de Bordeaux, 69035 Bordeaux, France.
authors.forename: P
authors.initials: P
authors.lastname: Fergelot
authors.affiliation: Unité d'immunohématologie et oncologie pédiatrique, hôpital Nord, CHU de Saint-Étienne, avenue Albert-Raymond, 42055 Saint-Étienne, France.
authors.forename: J-L
authors.initials: JL
authors.lastname: Stephan
mesh_terms: D020789:Cathepsin C / Q000235:genetics; D002675:Child, Preschool; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D057210:Delayed Diagnosis; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D033183:Interdisciplinary Communication; D000070516:Intersectoral Collaboration; D010214:Papillon-Lefevre Disease / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D010348:Patient Care Team; D010641:Phenotype; D011379:Prognosis
chemical_list: C533918:CTSC protein, human; D020789:Cathepsin C