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PERIO - Periodontal Practice Today
PERIO - Periodontal Practice Today 2 (2005), No. 3     19. Sep. 2005
PERIO - Periodontal Practice Today 2 (2005), No. 3  (19.09.2005)

Page 191-197

Pyogenic Skin Infections as a Presentation of Papillon-Lefèvre Syndrome: Phenotypic Variability or Under-Reporting?
Taibjee, Saleem M. / Zhang, Liqun / Chapple, Iain L. C. / Thakkar, Nalin / Moss, Celia
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive condition characterised by palmoplantar keratoderma and severe prepubertal periodontitis. Increased susceptibility to both pyogenic skin infections and liver abscesses have been reported in a minority of cases. Haim- Munk syndrome, reported in only two families worldwide, shows a constellation of periodontitis, keratoderma, skin infections, arachnodactyly, acro-osteolysis and onychogryphosis. Allelic mutations in the Cathepsin C ( CTSC) gene are reported in PLS and HMS. We report a boy presenting with recurrent staphylococcal abscesses at four months of age. Prepubertal periodontitis was noted at two years nine months, with additional thickening and cracking of his palms and soles. His father and two paternal aunts are similarly affected, his father being edentulous since the age of 18. Mutation analysis in the CTSC gene confirmed a homozygous R272P mutation in the proband and his father, his mother being heterozygous. The periodontal management strategy has aimed to eliminate periodontal pathogens from the child and parents using non-surgical periodontal therapy and adjunctive systemic antibiotics. The skin has been treated with emollients and topical antiseptics. Our patient has features of PLS and highlights the susceptibility to skin infections as an important presenting sign. The R272P mutation has been previously noted in families with PLS without documented skin infections, suggesting either phenotypic heterogeneity or under-reporting/lack of awareness of this feature. Tendency to skin infections has been reported in both PLS and HMS, whereas acro-osteolysis, arachnodactyly and pes planus appear unique to the two families with reported HMS. PLS and HMS may represent opposite ends of a phenotypic spectrum of allelic CTSC mutations, with factors including polymorphisms in disease-modifying loci and environmental influences underpinning the heterogeneity. However, given the previously reported co-inheritance of PLS with albinism, it is also possible that HMS is a variant of PLS, arising following co-inheritance of a further, yet to be identified gene mutation in the vicinity of the CTSC gene locus.

Keywords: cathepsin C, Haim-Munk, keratoderma, Papillon-Lefèvre, pre-pubertal periodontitis, pyogenic skin infections