Papillon-Lefévre sendromu

Palma-plantar hiperkeratoz

Kalıtsal - AR

2-4 yaşlarında belirir

Avuç ve tabanlarda hiperkeratoz

Soğukta ve kuru havalarda ağrılı çatlaklar

Orbita bölgesinde skuamöz hücreli ca riski

Eklem çevrelerinde psöriasisi anımsatan krutlu lezyonlar

Deride foliküler keratoz

Kıllarda dökülmeler

Alopesi

Gingival fibromatozis

Süt dişlerinin erüpsiyonu normal

Palma-plantar hiperkeratozun başlamasıyla oral lezyonlar

Güçlü gingivitis

Stomatit (aftlı)

Agresif periodontal patolojiler (süt ve sürekli dişlerin kaybı)

Dişlerin erken yitirilmesi (kök rezorpsiyonu; periodontoklasia)

Mikrodonti

Kısa köklü dişler

Ağız kokusu

Alveol kretleri atrofisi (erken dönemde)

Bölgesel lenfadenopati

Mikroftalmi

Koroid ve tentorium cerebelli kireçlenmesi

Zeka geriliği

Fenotip: Bkz Haim-Munk sendromu

 

  • Haim S, Munk J. Keratosis palmo-plantaris congenita, with periodontosis, archnodactyly and peculiar deformity of the terminal phalanges. British Journal of Dermatology, 77: 42-54, 1965

  • Smith P, Rosenzweig KA. Seven cases of Papillon-Lefevre syndrome. Periodontics, 5: 42-46, 1967

  • Hacham-Zadeh S, Schaap T, Cohen MM. A genetic analysis of the Papillon-Lefevre syndrome in a Jewish family from Cochin. American Journal of Medical Genetics, 2: 153-157, 1978

  • Puliyel JM, Sridharan Iyer KS. A syndrome of keratosis palmo-plantaris congenita, pes planus, onychogryphosis, periodontosis, arachnodactyly and a peculiar acro-osteolysis. British Journal of Dermatology, 115: 243-248, 1986

  • Hart TC, Stabholz A, Meyle J, et al. Genetic studies of syndromes with severe periodontitis and palmoplantar hyperkeratosis. Journal of Periodontal Research, 32: 81-89, 1997

  • Rüdiger S, Berglundh T. Root resorption and signs of repair in Papillon-Lefévre syndrome. A case study. Acta Odontologica Scandinavica, 57:221-224, 1999

  • Hart TC, Hart PS, Michalec M D, et al. Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. Journal of Medical Genetics, 37: 88-94, 2000

  • Lefevre C, Blanchet-Bardon C, Jobard F, et al. Point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome. Journal of Investigative Dermatology, 117: 1657-1661, 2001

  • Ullbro C, Crossner CG, Nederfors T, et al. Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome.  Journal of the American Academy of Dermatology, 48:345–351, 2003

  • Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. American Journal of Medical Genetics, 149A:1980–2002, 2009

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

  • Sreeramulu B, Haragopal S, Shalini K, et al. The prosthodontic management of a young edentulous patient with the papillon lefevre syndrome-a rare case report. Journal of Clinical & Diagnostic Research, 6(10):1808–1811, 2012

​

​