Low-dose acitretin in Papillon-Lefèvre syndrome: treatment and 1-year follow-up

Abstract

The Papillon-Lefèvre syndrome (PLS) is a rare, autosomal recessive disease that manifests with palmoplantar keratoderma and destructive periodontitis resulting in early onset periodontal breakdown in deciduous and permanent dentition. Management of this condition is difficult. Here we report one 11-year-old consanguineous Muslim boy suffering from PLS. After failing to get any benefit from methotrexate, three cycles of acitretin, each for 2 months, were given 1 month apart. In each cycle, acitretin (25 mg) was given every other day. At the end of the third cycle, treatment was stopped for 4 months to observe the extent of relapse. Thereafter, acitretin (25 mg) was given twice weekly for 4 months and then the patient was followed up for 1 year. Treatment with acitretin resulted in excellent improvement of periodontitis, increase in the alveolar bone height, and periodontal attachment. Improvement remained stable at the end of 1-year follow-up. There was excellent (>75%) improvement in keratoderma at the end of active therapy. Mild worsening of palmoplantar keratoderma was noticed whenever the drug was stopped. It improved when the drug was restarted. Other areas remained stable. At the end of 1-year follow-up, good improvement (50%) in palmoplantar keratoderma was achieved.

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

“…The favorable therapeutic response of skin lesions to oral acitretin and isotretinoin in our patients has previously been documented . Our report of six patients and a novel mutation in CTSC gene further expands the broad phenotypic and genotypic spectrum of PLS, which should be considered in patients presenting with the combination of PPK and severe early‐onset periodontitis.…”

Analysis of urinary cathepsin C for diagnosing Papillon–Lefèvre syndrome

“…The ready availability of large volumes of urine gives it many advantages over saliva and gingival crevicular fluids, which contain only small amounts of CatC activity in healthy subjects . The early implementation of a strict oral hygiene regimen can minimize the progression of periodontitis, and oral retinoid therapy can clear the skin lesions and improve the quality of life of patients with PLS . Demonstrating the absence of urinary CatC activity soon after birth and before the onset of clinical symptoms can be used as a screening procedure for PLS in populations with a high frequency of intrafamilial marriages and in close relatives of PLS patients.…”

Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature*

“…In the variant form, involving the loricrin gene (loricrin hPPK) low‐dose isotretinoin has been described to prevent digital amputation 18. Etretinate, isotretinoin and low‐dose acitretin have been the most important therapeutic options for keratoderma in Papillon–Lefèvre syndrome (PLS), an autosomal recessive hPPK associated with periodontitis caused by mutations in the Cathepsin C ( CTSC ) gene, with generally good results in terms of efficacy 19. In PLS, Balestri et al 20.…”

“…18 Etretinate, isotretinoin and low-dose acitretin have been the most important therapeutic options for keratoderma in Papillon-Lef evre syndrome (PLS), an autosomal recessive hPPK associated with periodontitis caused by mutations in the Cathepsin C (CTSC) gene, with generally good results in terms of efficacy. 19 In PLS, Balestri et al 20 showed a worsening of hPPK despite longterm treatment with acitretin (25 mg daily for 62 months). Acitretin was switched to 10 mg of alitretinoin for 2 weeks followed by 30 mg daily.…”