Papillon-Lefevre syndrome

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Papillon-Lefevre syndrome Classification and external resources
OMIM	245000
DiseasesDB	9583
MeSH	D010214

Papillon-Lefèvre syndrome (PLS) is an autosomal recessive^[1] genetic disorder caused by a deficiency in cathepsin C.^[2]

Papillon-Lefevre syndrome has an autosomal recessive pattern of inheritance.

1 Symptoms
2 Treatment
3 Eponym
4 External links
5 References

[edit] Symptoms

PLS is characterized by periodontitis and palmoplantar keratoderma.^[3] 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.

[edit] Treatment

Retinoids and antibiotics have been used.^[4]

[edit] Eponym

It is named for M. M. Papillon and Paul Lefèvre.^[5]^[6]

[edit] External links

Overview at mu.edu

[edit] References

^ 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. PMID 12637913.
^ 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.
^ Cagli NA, Hakki SS, Dursun R, et al (December 2005). "Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome". J. Periodontol. 76 (12): 2322–9. doi:10.1902/jop.2005.76.12.2322. PMID 16332247.
^ 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.