Here, we are presenting an elaborate review of PLS, its etiopathogenesis, clinical presentation, and management options. Original paper can be viewed here: ... [youtube.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]

Here We Are Presenting Case Report Of Siblings Who Presented With Palmoplantar Hyperkeratosis And Aggressive Periodontitis. Keywords: Papillon-Lefèvre Syndrome, Periodontitis, Palmoplantar, Hyperkeratosis, Cathepsin C 1. [slideshare.net]

On clinical examination, the patient presented with a senile facial appearance. [jofs.in]

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]

• 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]

• Myxedema

  PPK as a feature of systemic disease – Hypothyroidism, myxedema, diabetes mellitus, and chronic lymphedema. [visualdx.com]

• Abdominal Mass

  A few days before admission, the mother noted an abdominal mass associated with right upper quadrant pain. The pain, which was dull, achy, intermittent, but not radiating, was not associated with vomiting, diarrhea, or jaundice. [pediatrics.aappublications.org]

• Jaundice

  The pain, which was dull, achy, intermittent, but not radiating, was not associated with vomiting, diarrhea, or jaundice. On physical examination, the child was well developed and well nourished. [pediatrics.aappublications.org]

• 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]

• Decrease in Height

  Premature loss of teeth and loss of alveolar bone had resulted in decreased facial height and a senile appearance in case 1 [Figure 2] b. [jidonline.com]

• Plantar Hyperkeratosis

  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]

  (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]

• 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]

  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]

  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]

  Definition An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. [uniprot.org]

• Skin Disease

  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]

  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]

• Increased Sweating

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

• 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]

• 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]

• Staphylococcus Aureus

  The most common organisms associated with dental and liver infections are anaerobic bacteria (such as Actinobacillus actinomycetem comitans) and Staphylococcus aureus (5, 6). [ijp.tums.pub]

  Staphylococcus aureus, sensitive to cloxacillin and vancomycin and resistant to penicillin, was isolated from the liver abscess culture. [pediatrics.aappublications.org]

  In these siblings, the inflamed gingiva was the likely point of entry of Staphylococcus aureus that led to bacteremia and subsequently the liver abscess (case 2). [jidonline.com]

• Entamoeba Histolytica

  Serum antibody test for Entamoeba histolytica and E granulosus was negative, as well as stool for ova and parasite. Ultrasound-guided drainage was performed, and 100 mL of thick, yellowish exudate was obtained. [pediatrics.aappublications.org]

• Liver Biopsy

  Liver biopsy showed a granulomatous lesion caused by Mycobacterium tuberculosis that was confirmed by PCR. Contrary to this study, no serious cutaneous infection was observed. [ijp.tums.pub]

Numerous treatment regimens for the periodontal disease seen in PLS can be found in the literature. [ncbi.nlm.nih.gov]

Management and treatment Treatment is based on oral retinoids which attenuate the palmoplantar keratoderma and slow the alveolar bone lysis. [rarediseases.info.nih.gov]

Orthodontic treatment in periodontal compromised cases is most challenging, light forces and controlled mechanics are important for adjunctive orthodontic treatment. [jdrntruhs.org]

Treatment of the periodontal component of Papillon-Lefèvre syndrome. J Clin Periodontol 1986;13:6-10. 26. Eronat N, Ucar F, Kilinc G. [jisponline.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]

[…] body diagrams and clinical photographs of each syndrome Bulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis [books.google.com]

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]

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]

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

Etiology of Periodontal Diseases (Part 4) provides a more comprehensive background in periodontal anatomy, physiology, and pathogenesis. [books.google.com]

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

Etiology PLS is due to mutations in the CTSC gene (11q14.2) that codes for cathepsin C (also known as dipeptidyl peptidase I), a lysosomal protease playing a role in epidermal differentiation and desquamation and in activation of serine proteases expressed [rarediseases.info.nih.gov]

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]

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]

Download citation Published: 06 January 1990 Issue Date: 06 January 1990 DOI: Further reading Therapeutic targeting of cathepsin C: from pathophysiology to treatment Brice Korkmaz, George H. [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]

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 - 560 [jisppd.com]

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]

Preventive Periodontal Regimen in Papillon-Lefèvre Syndrome. Pediatric Dentistry 27:3, pages 226-231, 2005. Yang, H. W., Asikainen, S., Dogan, B., Suda, R., Lai, C. H. [fr.slideshare.net]

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]

If it achieves funding, they will provide "adequate remuneration for the provision of data and samples and invite you for co-authorship of any subsequent research publications." 11 JAN 2015 Science Patient compliance rates for SIT therapy to prevent peri-implantitis [efp.org]