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Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin C leading to premature loss of primary and permanent teeth at an age of five and seventeen respectively. Other symptoms include frequent pus-producing skin infections, abnormalities of the nails and excessive perspiration.
HOW IS PAPILLON-LEFÈVRE SYNDROME DIAGNOSED?
A general physician may conduct a thorough medical history evaluation as well as physical evaluation of the child to diagnose the condition.
HOW IS PAPILLON-LEFÈVRE SYNDROME TREATED?
The treatment of Papillon-Lefèvre Syndrome is directed toward the specific symptoms that are apparent in each individual. Different specialists would need to work together to treat the various unrelated symptoms. In some cases, surgery and skin grafts may be used to alleviate skin problems.
DID YOU KNOW?
Skin abnormalities may sometimes be apparent at birth or during infancy.