Early diagnosis and treatment is important to allow for prompt treatment to prevent long-term consequences such as tooth loss. A diagnosis can be made by a urine analysis for low/no activity of the enzyme cathepsin C. A full patient history and identification of characteristic physical symptoms is another way to identify this syndrome. However, often the symptoms are visually similar to other, milder, conditions, and it is only with the eruption of infant teeth that tissue degeneration or inflammation become apparent, often in conjunction with a sudden abnormality of skin colour. Another physical diagnosis is to identify abnormal accumulation of calcium within the skull. Genetic testing at the molecular level can look for alterations in the CTSC gene which are known to cause<unk> , however this diagnostic service is only available at specialized laboratories.
Papillon–Lefèvre syndrome
Bogart–Bacall syndrome
Michels Caskey syndrome
Bonnet–Dechaume–Blanc syndrome
Jeavons syndrome
Peters-plus syndrome
Bowen–Conradi syndrome
Burnside–Butler syndrome