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Gene found for Papillon-Lefevre syndrome--a disorder affecting skin and gums

l in that it begins very early in life - usually before age 3 - is very severe, and is generally unresponsive to standard periodontal and antibiotic treatments. Patients who suffer from this condition lose all of their baby teeth prematurely, and by age 5, are usually completely toothless. The disease also affects permanent teeth, with most patients losing all of their teeth by age 20. People with PLS also tend to have an overproduction of skin cells in their hands and feet causing flaky, scaly skin.

First described by Drs. Papillon and Lefevre in 1924, PLS is an extremely rare disorder, with a single case occurring in every 1 - 4 million people. The syndrome has been observed in different ethnic groups and geographic regions, and is a recessive disorder requiring a mutated gene inherited from each parent. Although Hart and colleagues found a different mutation in each of the five Turkish families, each of the observed mutations would likely result in an inactive cathepsin C.

Although it remains to be resolved exactly how the absence of a functional cathepsin C enzyme leads to PLS, the investigators know that the normal gene is active in skin and gingival tissues and also white blood cells of the immune system. "It is possible that the absence of a functioning cathepsin C affects the structural integrity of the protective barriers formed by skin cells and cells lining the gums, and may also cause the immune cells to operate less efficiently," according to Hart. "Such a 'double-whammy' effect would make the periodontal pocket particularly ripe for bacterial infection and resulting tooth loss."

Collaborating with Dr. Hart were Drs. Suzanne Hart, Donald Bowden, Michael Michaelec, Scott Callison, and Steve Walker from Wake Forest University; Dr. Yingze Zhang from the University of Pittsburgh; and Dr. Erhan Firatli from the University of Istanbul School of Dentistry, Istanbul, Turkey. The study was supported by the National Institute of Dental and Cran
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Contact: Wayne Little
wayne.little@nih.gov
301-496-4261
NIH/National Institute of Dental and Craniofacial Research
7-Dec-1999


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