Papillon-Lefèvre syndrome: A new case

• Published in: Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2017-04, Vol.24 (4), p.360-362
• Main Authors: Martinho, S, Levade, T, Fergelot, P, Stephan, J-L
• Format: Article
• Language: fre
• Subjects: Cathepsin C - genetics; Child, Preschool; Combined Modality Therapy; Delayed Diagnosis; DNA Mutational Analysis; Exons; Female; Genetic Carrier Screening; Humans; Interdisciplinary Communication; Intersectoral Collaboration; Papillon-Lefevre Disease - diagnosis; Papillon-Lefevre Disease - genetics; Papillon-Lefevre Disease - therapy; Patient Care Team; Phenotype; Prognosis
• ISSN: 1769-664X
• DOI: 10.1016/j.arcped.2017.01.013

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.