Book syndrome
From WikiMD's WELLNESSPEDIA
Alternate names[edit]
Premolar aplasia, hyperhidrosis, and canities prematura; PHC syndrome
Definition[edit]
Book syndrome is a very rare type of ectodermal dysplasia.
Epidemiology[edit]
To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case.
Cause[edit]
The cause is unknown.
Inheritance[edit]
- To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case.
- In the Swedish family, the syndrome was inherited in an autosomal dominant manner.
- In autosomal dominant inheritance, having a mutation in only one copy of the responsible gene is enough to cause signs and symptoms of the condition.
- When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene.
Signs and symptoms[edit]
- The signs and symptoms reported in the Swedish family included premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and early whitening of the hair.
- Early whitening of the hair was the most constant symptom, being found in every affected family member.
- The age of onset of this symptom ranged from age 6 to age 23.
- In some cases, there was whitening of hair on other parts of the body such as the armipits, genital hair, and eyebrows. Two-thirds of the affected people had an abnormality of the sweat glands.
- In the isolated case, additional features that were reported include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet).
Clinical presentation[edit]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Hyperhidrosis(Excessive sweating)
- Hypodontia(Failure of development of between one and six teeth)
- Premature graying of hair(Early graying)
- Small hand(Disproportionately small hands)
30%-79% of people have these symptoms
- Abnormal eyebrow morphology(Abnormality of the eyebrow)
- Bilateral single transverse palmar creases
- Hypoplastic fingernail(Small fingernail)
- Narrow palate(Narrow roof of mouth)
Diagnosis[edit]
- 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.
Treatment[edit]
NIH genetic and rare disease info[edit]
Book syndrome is a rare disease.
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Rare diseases - Book syndrome
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