How to diagnose Book syndrome ?
How is Book syndrome diagnosed? Due to the rarity of Book syndrome and scarcity of reports in the medical literature, we are unaware of specific information about diagnosing Book syndrome. In general, ectodermal dysplasias are diagnosed by the presence of specific symptoms affecting the hair, nails, sweat glands, and/or teeth. When a person has at least two types of abnormal ectodermal features (e.g., malformed teeth and extremely sparse hair), the person is typically identified as being affected by an ectodermal dysplasia. Specific genetics tests to diagnose ectodermal dysplasia are available for only a limited number of ectodermal dysplasias. Unfortunately, there currently is no genetic test for Book syndrome because the gene responsible for the condition has not yet been identified. People who are interested in learning more about a diagnosis of ectodermal dysplasia for themselves or family members should speak with their dermatologist and/or dentist. These specialists can help determine whether a person has signs and/or symptoms of ectodermal dysplasia.