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Papillon–Lefèvre syndrome

December 16, 2023

Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis,[1][2] is an autosomal recessive[3] genetic disorder caused by a deficiency in cathepsin C.[4][5]

Papillon-Lefevre syndrome
Other namesPalmoplantar keratoderma with periodontitis
Papillon–Lefèvre syndrome has an autosomal recessive pattern of inheritance.
SpecialtyDermatology, medical genetics 

Presentation edit

PLS is characterized by periodontitis and palmoplantar keratoderma.[6] The severe destruction of periodontium results in loss of most primary teeth by the age of 4 and most permanent teeth by age 14. Hyperkeratosis of palms and soles of feet appear in first few years of life. Destructions of periodontium follows almost immediately after the eruption of last molar tooth. The teeth are involved in roughly the same order in which they erupt.[citation needed]

Cause edit

Mutations in the cathepsin C gene (CTSC), located at human chromosome 11q14.1-q14.3, are the cause of PLS.[4][7] The disorder is inherited in an autosomal recessive manner.[4] This means the defective gene responsible for the disorder is located on an autosome (chromosome 11 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.[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 C.[8]

A full patient history and identification of characteristic physical symptoms is another way to identify this syndrome. However, often the symptoms are visually similar to other, milder, conditions, and it is only with the eruption of infant teeth that tissue degeneration or inflammation become apparent, often in conjunction with a sudden abnormality of skin colour.[8] Another physical diagnosis is to identify abnormal accumulation of calcium within the skull.[8]

Genetic testing at the molecular level can look for alterations in the CTSC gene which are known to cause Papillon–Lefèvre syndrome, however this diagnostic service is only available at specialized laboratories.[8]

Treatment edit

In 2006, retinoids and antibiotics have been used with a successful dental maintenance for one year.[9] In the past, only extraction of all teeth and construction of a complete denture were made.

An alternative to rehabilitation with conventional dental prothesis after total loss of the natural teeth was proposed by Drs. Ahmad Alzahaili and his teacher Jean-François Tulasne (developer of the partial bone graft technique used). This approach entails transplanting bone extracted from the cortical external surface of the parietal bone to the patient's mouth, affording the patient the opportunity to lead a normal life.[10][11][12] Notwithstanding this treatment does not scope the disease itself. Actually, it is the repositioning of bone from calvaria to the maxillary bones, and placement of dental implants in a completely edentulous maxilla when the patient has already lost all teeth. An already developed method to reconstruct maxillae in edentulous elderly people by other dental professionals. There's still[when?] no real treatment to help those with this disease to keep all their natural teeth, though their exfoliation and loss can be delayed. The maintenance of teeth is done by dental professionals with a procedure called scaling and root planing with the use of systemic antibiotics. The syndrome should be diagnosed as earlier as possible, so the teeth can be kept longer in the mouth, helping the development of the maxillary bones.[citation needed]

Eponym edit

It is named for M. M. Papillon and Paul Lefèvre.[13][14]

See also edit

References edit

  1. ^ Online Mendelian Inheritance in Man (OMIM): 245000
  2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  3. ^ Ullbro C, Crossner CG, Nederfors T, Alfadley A, Thestrup-Pedersen K (2003). "Dermatalogical and oral findings in a cohort of 47 patients with Papillon-Lefevre syndrome". J Am Acad Dermatol. 48 (3): 345–351. doi:10.1067/mjd.2003.197. PMID 12637913.
  4. ^ a b c Wani A, Devkar N, Patole M, Shouche Y (2006). "Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome". J. Periodontol. 77 (2): 233–237. doi:10.1902/jop.2006.050124. PMID 16460249.
  5. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 214. ISBN 0-7216-2921-0.
  6. ^ Cagli NA, Hakki SS, Dursun R, et al. (Dec 2005). "Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome". J. Periodontol. 76 (12): 2322–2329. doi:10.1902/jop.2005.76.12.2322. PMID 16332247.
  7. ^ Online Mendelian Inheritance in Man (OMIM): 602365
  8. ^ a b c d e "Papillon Lefèvre Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-04-17.
  9. ^ Ahuja V, Shin RH, Mudgil A, Nanda V, Schoor R (November 2005). "Papillon-Lefèvre syndrome: a successful outcome". J. Periodontol. 76 (11): 1996–2001. doi:10.1902/jop.2005.76.11.1996. PMID 16274321.
  10. ^ Zuhaili, Dr. Ahmed; Tulasne, Dr. Jean Francois (September 2014). "Dr. Ahmed Zuhaili performs yet another groundbreaking surgery". Dental Tribune Middle East and Africa (6): 14.
  11. ^ Alchab, Dr. Izdihar (2014). "Papillon–Lefèvre syndrome treatment with partial bone graft technique". Cone Beam International. 4: 16–17.
  12. ^ Zuhaili, Dr. Ahmed; Tulasne, Dr. Jean Francois. . French Dental Clinic UAE. Archived from the original on 2014-12-21.
  13. ^ synd/1804 at Who Named It?
  14. ^ M. M. Papillon, P. Lefèvre. Deux cas de kératodermie palmaire et plantaire symétrique familiale (maladie de Meleda) chez le frère et la soeur. Coexistence dans les deux cas d’altérations dentaires graves. Bulletin de la Société française de dermatologie et de vénéorologie, Paris, 1924, 31: 82-87.

External links edit

  • Keratosis palmoplantar periodontopathy; Papillon Lefevre Syndrome at NIH's Office of Rare Diseases

December 16, 2023
papillon, lefèvre, syndrome, also, known, palmoplantar, keratoderma, with, periodontitis, autosomal, recessive, genetic, disorder, caused, deficiency, cathepsin, papillon, lefevre, syndromeother, namespalmoplantar, keratoderma, with, periodontitis, autosomal, . Papillon Lefevre syndrome PLS also known as palmoplantar keratoderma with periodontitis 1 2 is an autosomal recessive 3 genetic disorder caused by a deficiency in cathepsin C 4 5 Papillon Lefevre syndromeOther namesPalmoplantar keratoderma with periodontitisPapillon Lefevre syndrome has an autosomal recessive pattern of inheritance SpecialtyDermatology medical genetics Contents 1 Presentation 2 Cause 3 Diagnosis 4 Treatment 5 Eponym 6 See also 7 References 8 External linksPresentation editPLS is characterized by periodontitis and palmoplantar keratoderma 6 The severe destruction of periodontium results in loss of most primary teeth by the age of 4 and most permanent teeth by age 14 Hyperkeratosis of palms and soles of feet appear in first few years of life Destructions of periodontium follows almost immediately after the eruption of last molar tooth The teeth are involved in roughly the same order in which they erupt citation needed Cause editMutations in the cathepsin C gene CTSC located at human chromosome 11q14 1 q14 3 are the cause of PLS 4 7 The disorder is inherited in an autosomal recessive manner 4 This means the defective gene responsible for the disorder is located on an autosome chromosome 11 is an autosome and two copies of the defective gene one inherited from each parent are required in order to be born with the disorder The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene but usually do not experience any signs or symptoms of the disorder citation needed Diagnosis editEarly 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 C 8 A full patient history and identification of characteristic physical symptoms is another way to identify this syndrome However often the symptoms are visually similar to other milder conditions and it is only with the eruption of infant teeth that tissue degeneration or inflammation become apparent often in conjunction with a sudden abnormality of skin colour 8 Another physical diagnosis is to identify abnormal accumulation of calcium within the skull 8 Genetic testing at the molecular level can look for alterations in the CTSC gene which are known to cause Papillon Lefevre syndrome however this diagnostic service is only available at specialized laboratories 8 Treatment editIn 2006 retinoids and antibiotics have been used with a successful dental maintenance for one year 9 In the past only extraction of all teeth and construction of a complete denture were made An alternative to rehabilitation with conventional dental prothesis after total loss of the natural teeth was proposed by Drs Ahmad Alzahaili and his teacher Jean Francois Tulasne developer of the partial bone graft technique used This approach entails transplanting bone extracted from the cortical external surface of the parietal bone to the patient s mouth affording the patient the opportunity to lead a normal life 10 11 12 Notwithstanding this treatment does not scope the disease itself Actually it is the repositioning of bone from calvaria to the maxillary bones and placement of dental implants in a completely edentulous maxilla when the patient has already lost all teeth An already developed method to reconstruct maxillae in edentulous elderly people by other dental professionals There s still when no real treatment to help those with this disease to keep all their natural teeth though their exfoliation and loss can be delayed The maintenance of teeth is done by dental professionals with a procedure called scaling and root planing with the use of systemic antibiotics The syndrome should be diagnosed as earlier as possible so the teeth can be kept longer in the mouth helping the development of the maxillary bones citation needed Eponym editIt is named for M M Papillon and Paul Lefevre 13 14 See also editPorokeratosis plantaris discreta List of cutaneous conditions List of dental abnormalities associated with cutaneous conditionsReferences edit Online Mendelian Inheritance in Man OMIM 245000 Rapini Ronald P Bolognia Jean L Jorizzo Joseph L 2007 Dermatology 2 Volume Set St Louis Mosby ISBN 978 1 4160 2999 1 Ullbro C Crossner CG Nederfors T Alfadley A Thestrup Pedersen K 2003 Dermatalogical and oral findings in a cohort of 47 patients with Papillon Lefevre syndrome J Am Acad Dermatol 48 3 345 351 doi 10 1067 mjd 2003 197 PMID 12637913 a b c Wani A Devkar N Patole M Shouche Y 2006 Description of two new cathepsin C gene mutations in patients with Papillon Lefevre syndrome J Periodontol 77 2 233 237 doi 10 1902 jop 2006 050124 PMID 16460249 James William Berger Timothy Elston Dirk 2005 Andrews Diseases of the Skin Clinical Dermatology 10th ed Saunders p 214 ISBN 0 7216 2921 0 Cagli NA Hakki SS Dursun R et al Dec 2005 Clinical genetic and biochemical findings in two siblings with Papillon Lefevre Syndrome J Periodontol 76 12 2322 2329 doi 10 1902 jop 2005 76 12 2322 PMID 16332247 Online Mendelian Inheritance in Man OMIM 602365 a b c d e Papillon Lefevre Syndrome NORD National Organization for Rare Disorders NORD National Organization for Rare Disorders Retrieved 2018 04 17 Ahuja V Shin RH Mudgil A Nanda V Schoor R November 2005 Papillon Lefevre syndrome a successful outcome J Periodontol 76 11 1996 2001 doi 10 1902 jop 2005 76 11 1996 PMID 16274321 Zuhaili Dr Ahmed Tulasne Dr Jean Francois September 2014 Dr Ahmed Zuhaili performs yet another groundbreaking surgery Dental Tribune Middle East and Africa 6 14 Alchab Dr Izdihar 2014 Papillon Lefevre syndrome treatment with partial bone graft technique Cone Beam International 4 16 17 Zuhaili Dr Ahmed Tulasne Dr Jean Francois Dr Ahmed Zuhailee Does It Again By Performing Life Changing Surgery For His Patient With Papillon lefevre Syndrome French Dental Clinic UAE Archived from the original on 2014 12 21 synd 1804 at Who Named It M M Papillon P Lefevre Deux cas de keratodermie palmaire et plantaire symetrique familiale maladie de Meleda chez le frere et la soeur Coexistence dans les deux cas d alterations dentaires graves Bulletin de la Societe francaise de dermatologie et de veneorologie Paris 1924 31 82 87 External links editKeratosis palmoplantar periodontopathy Papillon Lefevre Syndrome at NIH s Office of Rare Diseases Retrieved from https en wikipedia org w index php title Papillon Lefevre syndrome amp oldid 1182167289, wikipedia, wiki, book, books, library,

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