Papillon-Lefèvre Syndrome

ABSTRACT: A patient, with Papillon-Lefevre syndrome, presented with a premature loss of both deciduous and permanent teeth and hyperkeratosis palmaris et plantaris. Other abnormalities Such as psoriasiform hyperkeratosis. calcification of the falx, and frequent infections can be seen. Although no etiologic factor is known for this aberration, an autosomal recessive inheritance is established. Treatment usually consists of dental hygiene only since dermatologic therapy is usually unrewarding. A new finding resulted when fibroblasts from involved gingiva were compared with either uninvolved gingiva or controlled gingiva. The protein and collagen synthesis of the involved tissue was about twice that of the latter two groups.     

Papillon-Lefèvre Syndrome in Four Siblings Treated with Etretinate A Nine-Year Evaluation

Four siblings with Papillon-Lefèvre syndrome (3 boys and 1 girl), aged 8 to 12 at time of first diagnosis in 1978 are reported. These four patients represent the second largest sibship reported in the literature, and the only familial cases treated with etretinate for 6 years with an additional 3 1/2 year follow-up evaluation. No long-term side effects of etretinate were found in the children. All four patients are the product of a second cousin marriage; all demonstrate the B5 locus on HLA typing.     

Atypical familial Papillon–Lefèvre syndrome

The Papillon-Lefèvre syndrome is a rare autosomal recessive disorder. Consanguinity seems a notable prerequisite. Papillon-Lefèvre syndrome manifests in the first 6 months of life with rapidly progressive periodontitis and severe alveolar bone destruction leading to early loss of both the deciduous and permanent teeth in association with palmo-plantar hyperkeratosis. We present two unusual cases of familial Papillon-Lefèvre syndrome, one of whom has only late onset of mild skin lesions and the other has severe skin lesions and relatively mild periodontal disease. A number of other cases recently described have also had atypical features.     

Papillon–Lefèvre Syndrome with Homozygous Nonsense Mutation of Cathepsin C Gene Presenting with Late‐Onset Periodontitis

Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization caused by homozygous mutations in the gene encoding lysosomal protease cathepsin C (CTSC). It is clinically characterized by transgredient palmoplantar keratoderma (PPK) and periodontitis. A 15‐year‐old boy presenting with PPK from the age of 6 months and late‐onset periodontitis that began at the age of 12 years is described. Mutation analysis revealed a homozygous nonsense mutation (p.Y304X) in exon 7 of the CTSC gene. Late‐onset periodontitis in a patient with Papillon‐Lefèvre syndrome is a rare phenotypic variation.     

掌跖角皮症-牙周病综合征

报告1例掌跖角皮症-牙周病综合征.患者男,24岁.2岁时出现掌跖角化,并进行性加重,于14岁时牙周组织出现破坏,甲呈钩形.根据以上特点诊断为掌跖角皮症-牙周病综合征.给予阿维A 30 mg每日1次,复方水杨酸软膏(本院自制)及0.1%维A酸软膏外用,取得明显效果.     

Papillon‐Lefèvre syndrome: Oral aspects and treatment

Papillon‐Lefèvre syndrome (PLS) is a rare disorder characterized by diffuse palmoplantar erythematous, fissured hyperkeratosis, and aggressive periodontal disease that starts in the early periods of childhood. Periodontal disease occurs with the early loss of deciduous teeth at the age of 2 to 4 years, followed by the loss of permanent teeth during adolescence. Prosthodontics management of PLS patients is very complex and sometimes requires invasive therapeutic treatments. Early diagnosis is essential for correct treatment management avoiding the possibility that patients are early edentulous. Management could be a conventional periodontal treatment and pharmacological therapy but in severe cases, digital techniques, could be help the clinician for increased patient comfort and minimized tissue damage.     

Papillon-lefèvre syndrome]

Papillon-Lefèvre syndrome in a 13-year-old boy is described. His two great-grandfathers were first-degree cousins (consanguinity). However, no other case of the syndrome nor of palmoplantar keratoderma exists in the family. The palmoplantar keratoderma, which had started before becoming 1 year of age, is usually more pronounced during spring and autumn as well as during feverish diseases. However, it is of the transgradient type and is not necessarily very severe. The loss of the deciduous and permanent teeth was a consequence of severe juvenile parodontitis and of bone destruction. The boy could extract his teeth easily by himself and has total prothesis since the age of 14 years. Every treatment was unsuccessful.     

Papillon–Lefèvre syndrome: report of six patients and identification of a novel mutation

Papillon–Lefèvre syndrome is an autosomal recessive genodermatosis typically manifesting with the constellation of palmoplantar keratoderma and progressive early‐onset periodontitis. The cutaneous phenotype can be strikingly psoriasiform, possibly posing a diagnostic challenge. This rare disorder is caused by loss‐of‐function mutations in the CTSC gene, which encodes cathepsin C. We report six patients with Papillon–Lefèvre syndrome from five consanguineous Turkish families, in whom genetic analysis of the CTSC gene revealed four recurrent mutations (c.415G>A; c.1015C>T; c.1019A>G; and c.103–105delCTG) and a novel missense mutation (c.117G>T) in the homozygous state.     

Deficient phagocytic function in Papillon-Lefèvre syndrome.

The function of microphages has been studied in vitro in a 5 year-old girl with Papillon-Lefèvre syndrome. The results showed a weakness in chemotatic activity, a defect of intracellular killing of Staphylococcus aureus, and an almost normal phagocytosis but decreased intracellular killing of Candida albicans by the microphages.     

Is etretinate dangerous in Papillon-Lefèvre syndrome?

A 23-year-old girl affected by Papillon-Lefèvre syndrome developed, during Etretinate therapy (1 mg/kg/day), two liver abscesses caused by pyogenic bacteria and a subphrenic abscess. The immunological effects of retinoids may precipitate severe infections in patients with Papillon-Lefèvre syndrome, who probably have a basic, even though not always evident, defect of PMN chemotaxis.