Papillon-Lefèvre syndrome.
A patient, with Papillon-Lefèvre syndrome, presented with a premature loss of both deciduous and permanent teeth and hyperkeratosis palmaris et plantaris. Other abnormalities such as psoriasiform hyperkeratosis, calcification of the falx, and frequent infections can be seen. Although no etiologic factor is known for this aberration, an autosomal recessive inheritance is established. Treatment usually consists of dental hygiene only since dermatologic therapy is usually unrewarding. A new finding resulted when fibroblasts from involved gingiva were compared with either uninvolved gingiva or controlled gingiva. The protein and collagen synthesis of the involved tissue was about twice that of the latter two groups.
D002478:Cells, Cultured; D002675:Child, Preschool; D003094:Collagen / Q000096:biosynthesis; D005347:Fibroblasts / Q000378:metabolism; D005881:Gingiva / Q000378:metabolism; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis*; D008297:Male; D010214:Papillon-Lefevre Disease / Q000175:diagnosis* / Q000378:metabolism; D014176:Protein Biosynthesis; D014080:Tooth Exfoliation / Q000209:etiology
D003094:Collagen