In the dermatological exam, the patient presented accentuated palmoplantar hyperkeratosis on the hands and feet (Figure 1). [anaisdedermatologia.org.br]

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

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

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]

• 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]

• Abdominal Tenderness

  tenderness of right upper quadrant suggestive of pyogenic liver abcess. [dermatologyadvisor.com]

• Dental Caries

  (Courtesy of Sancy Leachman, MD) Other findings include severe gingival inflammation where the gingiva appears bright red and edematous and bleeds easily, dental caries, dysplastic and malformed teeth (Figure 3), degeneration of the structures that surround [dermatologyadvisor.com]

  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

  Palmoplantar keratosis usually develops in PLS patients by 3 years of age and varies from mild scaly skin to overt hyperkeratosis. Clinically, it is the periodontitis that distinguishes PLS from other forms of palmoplantar keratosis. [preventiongenetics.com]

  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]

  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

  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]

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

  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]

  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]

• Increased Sweating

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

  Be alert for thickening, dryness and fissuring of palms and soles, aggravation during winter, loosening followed by loss of deciduous teeth by the age of 5, loss of permenant teeth by the age of 17 if not treated, excess perspiration, increased sweating [dermatologyadvisor.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]

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]

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]

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

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]

[…] 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]

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]

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]

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

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

Notwithstanding that many etiologic factors like genetic mutations, bacterial agents, immunologic changes have been identified, the pathogenesis has not been fully understood. [content.sciendo.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]

Summary 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. [orpha.net]

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]

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]

Pathophysiology Cathepsin C is a lysosomal protease which processes and activates several granule serine proteases critical to immune and inflammatory responses of myeloid and lymphoid cells. [dermatologyadvisor.com]

The cause and pathophysiology of the disorder involve several factors, including genetic, immunological, and microbial factors. [cureus.com]

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]

It is useful to prevent the loss of permenant teeth. Treatment for pyogenic skin infections consists of appropriate antibiotics. [dermatologyadvisor.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]

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]

Rev Belge Med Dent. 1989; 44: 9-30 Google Scholar Yusof ZA Prevention of bacterial endocarditis in localized juvenile periodontitis and Papillon-Lefevre syndrome patients.Dent J Malays. 1988; 10: 31-35 PubMed Google Scholar Bullon P Pascual A Fernandez [jpedsurg.org]

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]