FIGURE 1: Clinical presentation of the patient with Papillon-Lefèvre syndrome. (A and B) Diffuse erythematous, hyperkeratotic, desquamating lesions were present on the palms and soles. [journals.lww.com]

The teeth numbers 12, 13, 14, 15, 22, 23, 24, 25, 32, 33, 34, 35, 37, 42, 43, 45, 44, 45, and 47 were present. Mobility was present in all the permanent teeth that were present. [hindawi.com]

We present a case of an otherwise healthy seven-year-old child with classical presentation of PLS with both dermatological and dental findings. [cureus.com]

Case presentation A series of five cases of Papillon–Lefèvre syndrome among the siblings in a family is presented here: a 3-year-old Arab girl, a 4-year-old Arab boy, a 11-year-old Arab boy, a 12-year-old Arab boy, and a 14-year-old Arab boy. [jmedicalcasereports.biomedcentral.com]

Papillon-Lèfevre syndrome: clinical presentation and a brief review. [scielo.br]

• Nail Abnormality

  COMMON Features of the Disorder Sparse hair Blisters on soles of feet/palms of hand (palmoplantar keratosis) Skin infections Premature tooth loss (periodontitis) Inflammation around teeth Nail abnormalities PROGNOSIS Individuals with the disorder lose [evolvegene.com]

  Nail abnormalities. Decreased sweating. [firstskinfoundation.org]

• Nasal Discharge

  The father noticed that he is mouth breathing and has nasal discharge for three months with congested nasal turbinates. He is developmentally up to age and has taken all his vaccines. He has allergies to fish. [cureus.com]

• Dental Caries

  He was also referred to dental services for dental caries and delayed teething (Figure 3), and to an otolaryngologist to rule out nasal polyps. [cureus.com]

  The 9-year-old patient, permanently under hospital care, came to the Department of Paediatric Dentistry due to the periodontitis and dental caries of the primary teeth. [termedia.pl]

• Plantar Hyperkeratosis

  (B) Plantar hyperkeratosis. Figure 1 (A) Severe destructive periodontitis. (B) Plantar hyperkeratosis. [academic.oup.com]

  Anderson, The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth, The Journal of Pediatrics, 1964, 65, 6, 895 CrossRef [onlinelibrary.wiley.com]

  hyperkeratosis periodontal disease Descripción : The connection between palmar plantar hyperkeratosis and severe periodontal disease was first reported in 1924 by Papillon and Lefevre. [189.203.43.34]

• Palmoplantar Keratosis

  Patients affected with autosomal dominant palmoplantar keratosis often present with malignancies of the esophagus and/or other malignancies (lymphomas, pancreas, breast, etc.). [accessanesthesiology.mhmedical.com]

  Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999 ;23 (4):421-4. 16. Eickholz P, Kugel B, Pohl S, Naher H, Staehle HJ. [ayubmed.edu.pk]

  Papillon-Lefèvre Syndrome: A Report of Three Siblings Author: Muddathir, Abdelkhalig Abstract: We reported an 18 year old Sudanese female patient, Gaali tribe, and another 2 males, brothers ages 10 and 8 years old, presented with diffuse trangrediens palmoplantar [khartoumspace.uofk.edu]

  The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees. [uniprot.org]

• Skin Disease

  […] for comprehensive understanding of this rare disease by dermatological clinician. [journals.lww.com]

  Keywords: Cathepsin C gene, Papillon-Lefevre syndrome, periodontitis INTRODUCTION Papillon-Lefevre syndrome belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles. [ncbi.nlm.nih.gov]

  Some affected individuals will only have mild periodontal disease, and/or will have later onset of periodontal disease. Affected individuals may have frequently recurring, pus producing (pyogenic) skin infections. [rarediseases.org]

  The role of cathepsin C in the development of dermatological conditions in PLS is still unclear and may explain the nonsignificant correlation between the severity of skin disease and severity of oral infection [5, 7-9]. [karger.com]

• Skin Plaque

  On examination, he was found to have an erythematous hyperkeratotic skin plaques and papules with scales over the planter and palmar aspect of both hands with similar lesions observed on both feet, legs, scalp, and ears with nail pitting. [cureus.com]

• Increased Sweating

  Increased sweating ( hyperhidrosis ) is quite common and there is a tendency to fungal and bacterial infections of the feet. [dermnetnz.org]

• Fear

  Conclusion Even though PLS is an extremely rare condition it is associated with lifelong psychological and social impacts on the growing children such as depression including hopelessness, aimlessness, social phobia, and a fear of communicating with people [hindawi.com]

The initial workup by a private physician included a complete blood count with differentials, liver function test, coagulation profile, urinalysis, and blood chemistry. All were normal. [pediatrics.aappublications.org]

At the end of the treatment, the authors reported having achieved success with orthodontic treatment [1414 Lux CJ, Kugel B, Komposch G, Pohl S, Eickholz P. Orthodontic treatment in a patient with papillon-lefèvre syndrome. [scielo.br]

[citation needed] Diagnosis[edit] Early diagnosis and treatment is important to allow for prompt treatment to prevent long-term consequences such as tooth loss.[8] A diagnosis can be made by a urine analysis for low/no activity of the enzyme cathepsin [en.wikipedia.org]

Treatment usually continued for at least 6-8 weeks. Early identification of PLS is essential for potentially effective treatment with retinoid. [oaepublish.com]

Treatment modalities such as systemic and local antibiotic treatment, and synthetic retinoids have been tried with limited success [37]. [jmedicalcasereports.biomedcentral.com]

Early diagnosis of PLS-associated periodontitis and institution of an appropriate periodontal/antimicrobial treatment regimen might improve the prognosis for the dentition. [dovepress.com]

Prognosis Despite meticulous dental care, all patients eventually become edentulous at the beginning of adulthood. Life expectancy is normal. Last updated: 11/1/2012 [rarediseases.info.nih.gov]

COMMON Features of the Disorder Sparse hair Blisters on soles of feet/palms of hand (palmoplantar keratosis) Skin infections Premature tooth loss (periodontitis) Inflammation around teeth Nail abnormalities PROGNOSIS Individuals with the disorder lose [evolvegene.com]

All teeth with poor prognosis were extracted and extensive periodontal therapy was administered, and a special denture was constructed. No Reference information available - sign in for access. No Citation information available - sign in for access. [ingentaconnect.com]

The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. [hindawi.com]

The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed. [jmedicalcasereports.biomedcentral.com]

Two cases of Papillon-Lefèvre syndrome, a rare hereditary affection of unknown etiology, whose clinical signs are hyperkeratosis palmoplantaris and parodontitis, are described. [moh-it.pure.elsevier.com]

Cathepsin C (CTSC) gene mutations are etiologic for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. [ncbi.nlm.nih.gov]

In recent years the possibility that other etiologies may be involved has not been seriously considered. [scienceopen.com]

Epidemiology The prevalence is estimated between 1/250,000 and 1/1,000,000 individuals. The male to female ratio is 1:1. PLS is found in all ethnic groups. [rarediseases.info.nih.gov]

Detailed epidemiological study could not pinpoint any particular reason for this. References 1. Ohkawara A,Miura Y, Sapporo JI. Papillon-Lefevre syndrome. Arch Dermatol 1974; 109: 726-8 2. Griffiths WAD, Leigh IM, Marks R. [ijdvl.com]

& La Vecchia, C., 1999, In : International Journal of Epidemiology. 28, 4, p. 626-630 5 p. Research output : Contribution to journal › Article Case report. [moh-it.pure.elsevier.com]

Br Dent J 168, 27–29 (1990). https://doi.org/10.1038/sj.bdj.4807059 Download citation Published: 06 January 1990 Issue Date: 06 January 1990 DOI: https://doi.org/10.1038/sj.bdj.4807059 Further reading Therapeutic targeting of cathepsin C: from pathophysiology [nature.com]

[…] report. 61 Derindag G...Bilge OM 29789144 2019 45 Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment. 61 Bullon P...Cordero MD 29410039 2018 46 Therapeutic targeting of cathepsin C: from pathophysiology [malacards.org]

Oral isotretinoin, discovered in the late 1960s, affects all the underlying pathophysiologic processes of acne and would be the ideal treatment if it did not have significant side effects. (2,9) During oral isotretinoin therapy, sebum production is reduced [de.slideshare.net]

Early diagnosis can prevent or delay tooth loss, which can help preserve function and esthetics. [scielo.br]

Located in 2026, Block C, Al Razi Building, Health Care City, Dubai, French Dental Clinic specializes in Orthognathic surgery as well as, its French qualified surgeons offer preventive, restorative, prosthodontic, Endodontic solutions for its patients [web.archive.org]

With the development of techniques for identifying periodontal pathogens, early treatment and compliance with prevention program are the major determinants for preserving permanent teeth in young patients. [dovepress.com]

CASE REPORT Year : 2008 | Volume : 26 | Issue : 4 | Page : 171-174 Papillon-Lefevre syndrome: A case report Department of Pedodontics and Preventive Dentistry, The Oxford Dental College, Hospital and Research Centre, Bommanahalli, Hosur Road, Bangalore [jisppd.com]

Necessary preventive measures, i.e., scaling and oral prophylaxis therapy with antibiotics for 10 days were accomplished to preserve the remaining teeth and prevent the further resorption of alveolar bone in case 1 and case 3. [jidonline.com]