Papillon-Lefèvre syndrome: from then until now

Abstract

Papillon-Lefévre syndrome (PLS) is a very rare autosomal recessive trait characterized by palmoplantar hyperkeratosis and severe generalized early-onset periodontitis leading to premature loss of both primary and permanent dentitions. The etiopathogenesis of the disorder is multifactorial with genetic, immunological, and microbial factors playing a major role. Other significant factors involved are environmental and reduced host defense mechanism. Consanguinity is a contributing factor because of its relevance to clinical genetics. The genetic defect underlying etiology of PLS is mutations of the gene 11q14-q21encoding for cathepsin C, an enzyme involved in a variety of inflammatory and immune processes. Virulent pathogens and their toxins in the subgingival plaque play a major factor in the initiation and progression of PLS periodontitis. Dysfunction of leukocytes is secondary causative factor. Variable clinical expression, late onset of symptoms, and frequent gene mutations reflect the complexity of the syndrome. Today, over 300 cases been reported in dental and medical literature with more cases discovered among Arabs, Indians, and Africans. About 20%-25% of patients with PLS have increased susceptibility to infections besides overwhelming destructive periodontitis. Management of the disorder directed toward halting periodontal destruction by eliminating the reservoir of causative organisms; using conventional periodontal treatment, oral hygiene instructions, antiseptic mouth rinses; and systemic antibiotic. Skin lesions usually treated with topical application of emollients, keratolytic agents, steroids, and oral retinoid. Any attempt to achieve and preserve healthy oral conditions will improve quality of life in patients with this intriguing syndrome.

Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre Syndrome

“…Therefore, poor quality of life is expected in childhood, as it corresponds with the most destructive period of the disease. The periodontal condition and tooth loss generate high sensitivity in patients with PLS and poor diet quality ( Hattab, 2019 ). These subjects present an increased incidence of skin and oral infections, which led to a substantial immunological disorder hypothesis at the first line of cellular defense.…”

Orthodontic Treatments of Papillon-Lefevre Syndrome: Two Case Reports

“…Periodontal therapy includes mechanical debridement by scaling and polishing, systemic antibiotics to eliminate the pathogen reservoir, extraction of hopeless mobile teeth, maintenance of good oral hygiene, and regular monitoring and recall appointments. 12,19 Eradication of subgingival Aa and maintenance of good oral hygiene are key factors in in preserving permanent teeth in young PLS patients. 18,20 In our reported cases, the therapeutic approaches for the primary dentition period were different.…”

“…11 Even with these advances in recognizing the genetic predisposition of the syndrome, the pathogenesis leading to the periodontal involvement is still unclear. 12 Dermatological signs develop before the age of 4 to 6 months and remain throughout the patient's life. Common dermatological changes include well-demarcated erythematous hyperkeratotic lesions on the soles, the palms and the dorsum of the hand.…”

Locked and Loaded: Mechanisms Regulating Natural Killer Cell Lytic Granule Biogenesis and Release

“…Once in the LGs, granzymes are finally converted to their mature and active form by removal of the inhibitory dipeptide by the cysteine proteases cathepsin C or H ( 38 – 40 ). The importance of granzyme processing is revealed in Papillon–Lefèvre syndrome (PLS), which is caused by autosomal recessive mutation of CTSC gene that encodes cathepsin C ( Table 1 ) ( 41 , 42 ). Cathepsin C is a lysosomal cysteine protease that processes granzyme A and B ( 43 ).…”