Papillon-Lefevre syndrome (PLS) manifests as an autosomal recessive disorder caused by a mutation in the cathepsin C (CTSC) gene. This genetic alteration results in palmoplantar hyperkeratosis, rapid onset of periodontitis, and premature shedding of both primary and permanent teeth. The major etiological factor responsible for the development of this disorder appears to be variations in the CTSC gene, which is responsible for the production of the cathepsin C enzyme in the body. The multifactorial aetiology of the syndrome is influenced by immunologic, genetic, or microbial factors. This case report presents a clinical picture of a 21-year-old Indian male patient with oligodontia and mobile teeth accompanied by palmoplantar keratosis and a history of recurrent infection. The detailed family history of the patient revealed genetic relevance with PLS. This article will discuss in detail the diagnosis, evaluation and treatment modalities involved in the management of the case.

暂无摘要。

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.

OBJECTIVE: Papilion-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder that involves palmoplantar keratosis (PK) and severe aggressive periodontitis. Cathepsin C (CTSC) gene mutations are etiologic for PLS, with more than 60 different mutations reported in different ethnic groups worldwide. The purpose of this study was to report a novel cathepsin C mutation in a Brazilian patient.
METHODS: A 4-year-old boy presented with aggressive periodontitis, recession, missing teeth, and hyperkeratosis of the palms of hands and soles. Peripheral blood samples were obtained from family members for genomic DNA isolation. The coding region and exon/intron boundaries of the CTSC gene were amplified and sequenced.
RESULTS: The patient had a PLS phenotype, which included PK and early-onset severe periodontitis. Sequence analysis showed a novel CTSC mutation (c.267-268del) present in the homozygous state.
CONCLUSIONS: This report described a novel mutation in a family with Brazilian Papillon-Lefèvre syndrome and presented a review of all cathepsin C (65) mutations reported to date.

Papillon-Lefévre syndrome (PLS) is characterized by severe periodontal disease extending to destruction of the alveolar bone surrounding deciduous teeth and palmoplantar hyperkeratosis of the skin. Increased susceptibility to infection has been reported among individuals with the cathepsin C (CTSC) gene mutation. This article reports a 7-year-old Japanese girl who presented with deciduous tooth mobility and was diagnosed as having PLS. Radiographic examination revealed loosening of deciduous incisors and the right second molar of the maxilla, and destruction of the alveolar bone around the residual deciduous dentition. However, there was no destruction of the alveolar bone around the permanent molars. The patient did not show the typical signs of CTSC polymorphism, which almost always negatively impacts certain activating enzymes. With respect to immune function, analysis of the patient\'s leukocytes indicated that H(2)O(2), chemotactic and phagocytotic functions were within the normal range. However, the special precautions normally applied to prevent infections in PLS patients undergoing dental treatment were taken.

A 15-year-old boy presented with symmetric, well-demarcated, yellowish, keratotic plaques over the skin of his palms and soles extending onto the dorsal surfaces. Well-circumscribed, psoriasiform, erythematous, scaly plaques were also present on the elbows and knees bilaterally along with dystrophy an transverse grooving of the nails. He also had swollen and friable gums since the age of 3 with subsequent loss of most of his permanent dentition. These findings are consistent with Papillon-Lefèvre syndrome. The clinical presentation, differential diagnosis, complications and management of this syndrome are discussed.