Papillon-Lefevre syndrome

Papillon-Lefevre syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 9583
ICD10 =
ICD9 =
ICDO =
OMIM = 245000
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D010214

Papillon-Lefèvre syndrome (PLS) is an autosomal recessive [cite journal |author=Ullbro C, Crossner CG, Nederfors T, Alfadley A, Thestrup-Pedersen K |title=Dermatalogical and oral findings in a cohort of 47 patients with Papillon-Lefevre syndrome |journal=J Am Acad Dermatol. |volume=48 |issue=3 |pages=345-351 |year=2003 |pmid=12637913 ] genetic disorder caused by a deficiency in cathepsin C. [cite journal |author=Wani A, Devkar N, Patole M, Shouche Y |title=Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome |journal=J Periodontol. |volume=77 |issue=2 |pages=233-237 |year=2006 |pmid=16460249 |doi=10.1902/jop.2006.050124]

ymptoms

PLS is characterized by periodontitis and palmoplantar keratoderma.cite journal |author=Cagli NA, Hakki SS, Dursun R, "et al" |title=Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome |journal=J. Periodontol. |volume=76 |issue=12 |pages=2322–9 |year=2005 |month=December |pmid=16332247 |doi=10.1902/jop.2005.76.12.2322 |url=] 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.

Treatment

*Retinoids and antibiotics have been used.cite journal |author=Ahuja V, Shin RH, Mudgil A, Nanda V, Schoor R |title=Papillon-Lefèvre syndrome: a successful outcome |journal=J. Periodontol. |volume=76 |issue=11 |pages=1996–2001 |year=2005 |month=November |pmid=16274321 |doi=10.1902/jop.2005.76.11.1996 |url=]

Eponym

It is named for M. M. Papillon and Paul Lefèvre. [WhoNamedIt|synd|1804] [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.]

References

External links

* [http://www.dental.mu.edu/oralpath/lesions/papillonlefevre/papillonlefevre.htm Overview at mu.edu]
*RareDiseases|3100|Keratosis palmoplantar periodontopathy; Papillon Lefevre Syndrome


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