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Case Reports
. 2012 Apr;16(2):261-5.
doi: 10.4103/0972-124X.99273.

Papillon-Lefèvre syndrome: Case report and review of the literature

Fayiza Yaqoob Khan  1 , Suhail Majid Jan, Mubashir Mushtaq
Affiliations
Case Reports

Papillon-Lefèvre syndrome: Case report and review of the literature

Fayiza Yaqoob Khan et al. J Indian Soc Periodontol. 2012 Apr.

Abstract

Papillon-Lefèvre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome; but a recent report has suggested that the condition is linked to mutations of the cathepsin C gene. Two cases of Papillon-Lefèvre syndrome in the same family, having all of the characteristic features are presented. An 11-year-old girl, and her elder sister, a 13-year-old girl complained of loose teeth and discomfort in chewing along with recurrently swollen and friable gums. Both patients also had premature shedding of their deciduous teeth. The family history revealed consanguineous marriage of the parents. Both patients presented with persistent thickening, flaking and scaling of the skin of palms and soles. Severe generalized periodontal destruction with mobility of teeth was evident on intraoral examination; orthopantomograph examination showed severe generalized loss of alveolar bone in both the patients.

Keywords: Hyperkeratosis; Papillon-Lefèvre syndrome; periodontitis.

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Conflict of interest statement

Conflict of Interest: None declared

Figures

Figure 1
Figure 1
(a) Case 1 presenting with yellowish, keratotic, confluent plaques affecting the skin of palmar surfaces of hands; (b) Case 1 presenting with keratotic plaques on the dorsal surfaces of hands; (c) Keratotic plaques affecting the dorsal surface of feet; (d) Several confluent plaques on soles
Figure 2
Figure 2
(a) Case 2 presenting with keratotic, confluent plaques affecting the skin of palmar surfaces of hands; Keratotic plaques affecting the dorsal surfaces of hands; (c) Plaques affecting the dorsal surfaces of feet; (d) Several confluent plaques affecting the soles; (e) In case 2, well-circumscribed, erythematous, scaly plaques on the knees bilaterally are also noticed
Figure 3
Figure 3
Intraoral examination of case 1 showing missing upper left permanent central incisor, lower left permanent central and lateral incisors and permanent right lower central incisor. Severe gingival inflammation, abscess formation, and deep periodontal pockets were noticed. Severe mobility affecting all the teeth, with heavy deposits of plaque and calculus and halitosis, were also present
Figure 4
Figure 4
Intraoral examination of case 2 showing deep periodontal pockets, gingival inflammation, and mobility of lower anterior teeth
Figure 5
Figure 5
OPG of case 1 showing severe generalized destruction of alveolar bone. The mandibular right first molar was almost entirely out of its socket with not much bone support
Figure 6
Figure 6
OPG of case 2 showing generalized destruction of alveolar bone. See the severe periodontal destruction in upper right first molar
Figure 7
Figure 7
Lateral skull view of case 1 showing no evidence of intracranial calcification
See this image and copyright information in PMC

References

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