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Case Reports
. 2009 Dec 30;3(4):53-5.
doi: 10.3315/jdcr.2009.1039.

Papillon-lefevre syndrome

Mashkoor Ahmad  1 , Iffat Hassan, Qazi Masood
Affiliations
Case Reports

Papillon-lefevre syndrome

Mashkoor Ahmad et al. J Dermatol Case Rep. .

Abstract

Background: Papillon-Lefevre syndrome is a rare autosomal recessive disorder caused by cathepsin C gene mutation leading to the deficiency of cathepsin C enzymatic activity. The disease is characterized by palmoplantar hyperkeratosis, loss of deciduous and permanent teeth and increased susceptibility to infections. Onset of palmoplantar hyperkeratosis and periodontopathy is most commonly before the age of 4 years.

Main observations: A 15 year old boy with a history of frequent infections presented with hyperkeratosis of palms and soles, which worsened during winter season. Examination of the oral cavity revealed missing mandibular central incisors and left lateral incisors. Most remaining permanent teeth were mobile. Fibrosis and scarring of gingival and labial mucosa restricted opening of the mouth.

Conclusion: Early diagnosis of Papillon-Lefevre syndrome may help preserve the teeth. We present a case of a late diagnosis of this syndrome.

Keywords: Papillon-Lefevre syndrome; cathepsin C; gene mutation; hyperkeratosis; infections; keratoderma; oral mucous membranes; psoriasis; teeth.

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Figures

Figure 1
Figure 1
Patient with Papillon-Lefevre Syndrome. Loss of permanent dentition (A), hyperkeratosis of dorsal aspect of feet and palms and psoriasiform plaques on knees (B). Atrophic scarring resulting from recurrent Infections on the trunk (C) and scalp (D).
See this image and copyright information in PMC

References

    1. Hart TC, Hart PS. Genetic studies of craniofacial anomalies: clinical implications and applications. Orthod Craniofac Res. 2009;12:212–220. - PMC - PubMed
    1. Kurban M, Wajid M, Shimomura Y, Bahhady R, Kibbi AG, Christiano AM. Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome. Dermatology. 2009;219:289–294. - PMC - PubMed
    1. Dhanrajani PJ. Papillon-Lefevre syndrome: clinical presentation and a brief review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;108:e1–7. - PubMed
    1. Ullbro C, Crossner CG, Nederfors T, Alfadley A, Thestrup-Pedersen K. Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome. J Am Acad Dermatol. 2003;48:345–351. - PubMed
    1. Meade JL, de Wynter EA, Brett P, Sharif SM, Woods CG, Markham AF, Cook GP. A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity. Blood. 2006;107:3665–3668. - PubMed

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