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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
small slender toy spaniel with erect ears and a black-spotted brown to white coat

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/08/18 23:51:20」(JST)

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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]

Characteristics

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 .

Cause and Genetics

Papillon–Lefèvre syndrome has an autosomal recessive pattern of inheritance.

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.

Treatment

Retinoids and antibiotics have been used.^[8]

Eponym

It is named for M. M. Papillon and Paul Lefèvre.^[9]^[10]

References

^ 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 1-4160-2999-0.
^ 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-Lefèvre 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-Lefèvre Syndrome". J. Periodontol. 76 (12): 2322–2329. doi:10.1902/jop.2005.76.12.2322. PMID 16332247.
^ Online 'Mendelian Inheritance in Man' (OMIM) 602365
^ 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.
^ synd/1804 at Who Named It?
^ 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

Overview at mu.edu
Keratosis palmoplantar periodontopathy; Papillon Lefevre Syndrome at NIH's Office of Rare Diseases

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UpToDate Contents

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1. 小児における歯周病関連の全身疾患 systemic conditions associated with periodontal disease in children
2. 貧食細胞機能の原発性疾患：概要 primary disorders of phagocytic function an overview
3. 遺伝性皮膚症 the genodermatoses
4. 小児および思春期における歯肉炎および歯周炎の概要 overview of gingivitis and periodontitis in children and adolescents

English Journal

Full-Mouth Rehabilitation of an Edentulous Patient with Papillon-Lefevre Syndrome Using Dental Implants: A Clinical Report.

Ahmadian L, Monzavi A, Arbabi R, Hashemi HM.Source?Private Practice, Department of Prosthodontics, School of Dentistry, Zahedan, Iran ?Department of Prosthodontics and Dental Implants, School of Dentistry, Tehran University of Medical Sciences, Tehran, Iran ?Department of Maxillofacial Surgery and Dental Implants, School of Dentistry, Tehran University of Medical Sciences, Tehran, Iran.
Journal of prosthodontics : official journal of the American College of Prosthodontists.J Prosthodont.2011 Oct 4. doi: 10.1111/j.1532-849X.2011.00768.x. [Epub ahead of print]
Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder. The oral manifestations of the syndrome include rapidly progressive periodontal disease resulting in premature exfoliation of primary and permanent dentitions. Patients are often edentulous at an early age and require prosthodo
PMID 21974795

Japanese Journal

Novel p.M1T and recurrent p.G301S mutations in cathepsin C in a Japanese patient with Papillon-Lefevre syndrome : Implications for understanding the genotype/phenotype relationship

OCHIAI Toyoko,NAKANO Hajime,ROKUNOHE Daiki,AKASAKA Eijiro,TOYOMAKI Yuka,MITSUHASHI Yoshihiko,SAWAMURA Daisuke
Journal of dermatological science 53(1), 73-75, 2009-01-01
NAID 10025332173