Hyperkeratosis Palmo-Plantaris with Periodontosis (Papillon-Lefèvre)

Dekker, G; Lh, Jansen

doi:10.1159/000256237

Cited by 37 publications

(3 citation statements)

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“…It is worth rementioning the lesional invasion of both pretibial crests at the age of 10 years, a rare occurrence [4]. These are features similar to those of the mal de Meleda, of which keratosis palmo-plantaris was considered a special variant, but which, since Jansen' s [8,9] and Bellenger' s [1] studies, is considered as an entity in its own right.…”

Section: Discussionmentioning

confidence: 99%

Papillon-Lefèvre Syndrome

Bravo-Piris¹,

Aparicio²,

Moran³

et al. 1983

Dermatology

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We report a case of Papillon-Lefèvre syndrome in a patient aged 26 in whom the familial genetic study showed close consanguinity among the parents. Oral treatment with aromatic retinoid during 6 weeks provided nearly total healing of the cutaneous lesions. Among the explorations carried out, attention must be paid to the lessening of chemotactic factors in the blood serum. Throughout his life, the patient suffered pronounced bacterial infectious processes, the last being especially severe and leading rapidly to death.

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Section: Discussionmentioning

confidence: 99%

Papillon-Lefèvre Syndrome

Bravo-Piris¹,

Aparicio²,

Moran³

et al. 1983

Dermatology

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“…It was first described by Papillon and Lefèvre (1924) as a form of Mal de Meleda (McKusick 1996, no. 248 300) and only later classified as a distinct entity (Jansen and Dekker 1956). PLS is a rare condition with an estimated prevalence of 1 to 4 cases per million people (Gorlin et al 1964).…”

Section: Introductionmentioning

confidence: 99%

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping

et al. 1997

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Papillon-Lefèvre syndrome is an autosomal recessively inherited palmoplantar keratoderma of unknown aetiology associated with severe periodontitis leading to premature loss of dentition. Three consanguineous families, two of Turkish and one of German origin, and three multiplex families, one of Ethiopian and two of German origin, with 11 affected and 6 unaffected siblings in all were studied. A targeted genome search was initially attempted to several candidate gene regions but failed to demonstrate linkage. Therefore a genome-wide linkage scan using a combination of homozygosity mapping and traditional linkage analysis was undertaken. Linkage was obtained with marker D11S937 with a maximum two-point lod score of Zmax = 6.1 at recombination fraction theta = 0.00 on chromosome 11q14-q21 near the metalloproteinase gene cluster. Multipoint likelihood calculations gave a maximum lod score of 7.35 between D11S901 and D11S1358. A 9.2-cM region homozygous by descent in the affected members of the three consanguineous families lies between markers D11S1989 and D11S4176 harbouring the as yet unknown Papillon-Lefèvre syndrome gene. Haplotype analyses in all the families studied support this localisation. This study has identified a further locus harbouring a gene for palmoplantar keratoderma and one possibly involved in periodontitis.

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“…The syndrome, which appears io children at the age of 1-3 yr, is characterized by diffuse palmar and plantar byperkeratosis and a rapidly progressing periodontal destruction. Loss ofthe primary dentition is common before the age of 6, and all permanent teeth are usually lost in the early teens (2,3). Increased susceptibility to other infections has been reported in about 25% ofthe approximately 130 cases described (4).…”

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confidence: 99%

In vitro studies of monocyte function in two siblings with Papillon‐Lefèvre syndrome

Preus

Mørland

1987

European J Oral Sciences

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— Blood monocytes were isolated from two siblings with Papillon‐Leferve syndrome (PLs) and compared to corresponding cells from their healthy cousin. The number ofmonocytes isolated were within normal limits in all three test participants. Aggregating tendency was increased when PLs monocytes were cuitured in ihe presence of autologous sera. The monocyre ability or specific immune phagocytosis was decreased in PLs patients. The mnonocyte marphology, non‐specilic phagocytosis, lysosomal enzyme activities, and response to E. coli endo‐toxin were similar in patients and control.

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Hyperkeratosis Palmo-Plantaris with Periodontosis (Papillon-Lefèvre)

Cited by 37 publications

References 0 publications

Papillon-Lefèvre Syndrome

Papillon-Lefèvre Syndrome

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping

In vitro studies of monocyte function in two siblings with Papillon‐Lefèvre syndrome

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