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. 2016 Sep 22;10(1):260.
doi: 10.1186/s13256-016-1051-z.

Papillon-Lefèvre syndrome: a series of five cases among siblings

Zyad M AIBarrak  1 , Adel S Alqarni  2 , Elna P Chalisserry  3 , Sukumaran Anil  2
Affiliations

Papillon-Lefèvre syndrome: a series of five cases among siblings

Zyad M AIBarrak et al. J Med Case Rep. .

Abstract

Background: Papillon-Lefèvre syndrome is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressively progressing periodontitis leading to premature loss of deciduous and permanent dentition. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed.

Case presentation: A series of five cases of Papillon-Lefèvre syndrome among the siblings in a family is presented here: a 3-year-old Arab girl, a 4-year-old Arab boy, a 11-year-old Arab boy, a 12-year-old Arab boy, and a 14-year-old Arab boy. The patients presented with severe gingival inflammation and mobility of teeth. The clinical manifestations were typical of Papillon-Lefèvre syndrome and the degree of involvement of the oral and skin conditions varied among them.

Conclusions: This case series stresses the consanguinity in the family as an etiologic factor. All siblings in the family were affected with Papillon-Lefèvre syndrome which makes this a rare case. A multidisciplinary approach with the active participation of a dental surgeon, dermatologist, and pediatrician is essential for the management of cases of Papillon-Lefèvre syndrome.

Keywords: Cathepsin C; Consanguinity; Gene mutation; Hyperkeratosis; Palmoplantar keratosis; Papillon–Lefèvre syndrome; Periodontitis; Premature tooth loss.

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Figures

Fig. 1
Fig. 1
Case 1. a Clinical appearance of the deciduous teeth, note the exfoliated primary teeth, gingivitis, and plaque accumulation. b Panoramic radiograph showing bone loss and migrated teeth with bone loss
Fig. 2
Fig. 2
Case 2. a Intraoral appearance with gingival inflammation, plaque accumulation, migration of teeth. b Panoramic radiograph showing bone destruction and interdental spacing
Fig. 3
Fig. 3
Case 3. Panoramic radiograph showing severe periodontal destruction and migration of teeth
Fig. 4
Fig. 4
Case 4. a Severe gingivitis with periodontal destruction and migration of permanent molars. b Panoramic radiograph showing severe periodontal destruction, note the migration and floating of the lower first molars
Fig. 5
Fig. 5
Case 5. a Intraoral appearance with loss of permanent anterior from both jaws, severe inflammation, and enlargement of the gingiva. b Panoramic radiograph showing severe destruction of the alveolar bone and loss of permanent anterior teeth
Fig. 6
Fig. 6
Hyperkeratotic lesions on the palms and the dorsal surface (Case 5)
Fig. 7
Fig. 7
Hyperkeratotic lesions on the soles (Case 5)
See this image and copyright information in PMC

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