Sällsynt, autosom recessiv rubbning som förekommer i åldrarna 1 - 5 år. Karakteriseras av palmoplantar keratoderma med parodontit (tandlossning) och prematur förlust av både mjölktänder och permanenta tänder. Mutationer av katepsin C-gener har kopplats till sjukdomen.
Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.
Inga svenska synonymer finns.
Papillon Lefevre Disease — Keratosis Palmoplantaris with Periodontopathia — Papillon-Lefevre Syndrome — Papillon Lefevre Syndrome — Keratosis Palmoplantar Periodontopathy — Keratosis Palmoplantar Periodontopathies — Palmoplantar Periodontopathies, Keratosis — Haim-Monk Syndrome — Haim Monk Syndrome