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Papillon Lefevre Disease

PLS


Presentation

  • 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]
  • 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]
  • Severe mobility affecting most of the teeth with halitosis were present.[ncbi.nlm.nih.gov]
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]
Lymphedema
  • PPK as a feature of systemic disease – Hypothyroidism , myxedema, diabetes mellitus, and chronic lymphedema .[visualdx.com]
Gangrene
  • Diagnosis can be made on the basis of increased amounts of phosphoethanolamine in the urine. [10], [11] Another condition characterized by progressive gangrenous lesions involving the gingiva and alveolar bone, resulting in exfoliation of the teeth, is[e-ijd.org]
Right Upper Quadrant Pain
  • 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 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]
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]
  • Papillon-Lefèvre syndrome (PLS) is a rare autosomal disorder characterized by severe periodontitis and palmar plantar hyperkeratosis (PPK). PLS is caused by mutations in the cathepsin C (CTSC) gene.[ncbi.nlm.nih.gov]
  • J Indian Soc Pedod Prev Dent 2008;26:171-4 The Papillon-Lefevre syndrome (PLS) is a rare genodermatosis of autosomal recessive inheritance manifesting as palmer plantar hyperkeratosis with periodontitis. 2 A Case Report of Papillon - Lefevre Syndrome[jisppd.com]
Palmoplantar Keratosis
  • 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]
  • 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]
  • 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]
Furunculosis
  • PLS is accompanied, in half of the patients, by enhanced susceptibility to cutaneous and systemic infections (furunculosis, skin abscesses, pyoderma, hidradenitis suppurativa (see this term), respiratory tract infection...).[rarediseases.info.nih.gov]
  • Some individuals may be at risk for other infections including liver abscesses, Infection of hair follicles (furunculosis), respiratory tract infections, and hidradenitis supportiva, a condition characterized by swollen, painful lesions occurring in the[rarediseases.org]
  • Approximately 20%–25% of PLS cases suffer from increased susceptibility to infections other than periodontitis; most of them show predisposition to mild skin infections such as furunculosis or pyodermas.[ncbi.nlm.nih.gov]
Follicular Hyperkeratosis
  • Patients may also present with malodorous hyperhidrosis, follicular hyperkeratosis, nail dystrophy or dural calcifications. The association of PLS with malignant melanoma or squamous cell carcinoma has been reported in very rare occasions.[rarediseases.info.nih.gov]
  • Diffuse transgredient (first occurs on the palms and soles and then spreads to the dorsa of the hands and feet) palmarplantar keratosis develops, with occasional reports of diffuse follicular hyperkeratosis and keratosis on the elbows and knees.[jidonline.com]
Increased Sweating
  • Increased sweating ( hyperhidrosis ) is quite common and there is a tendency to fungal and bacterial infections of the feet.[dermnetnz.org]

Workup

  • 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]
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]

Treatment

  • 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 Treatment for Papillon-Lefevre Syndrome is symptomatic depending on the features of an individual. Treatment includes oral retinoid medications, antibiotics, dental implants, and routine dental care.[evolvegene.com]

Prognosis

  • 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]

Etiology

  • 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]
  • 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

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]
  • READ STORY 11 JAN 2015 Science Patient compliance rates for SIT therapy to prevent peri-implantitis - the latest summary of JCP research The crucial subject of patient compliance with supportive post-implant therapy (SIT) comes under focus in the latest[efp.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]
  • Early diagnosis and treatment is important to allow for prompt treatment to prevent long-term consequences such as tooth loss.A diagnosis can be made by a urine analysis for low/no activity of the enzyme cathepsin C.A full patient history and identification[en.wikipedia.org]

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