Deepika vegiraju: Created page with "== '''Alternate names''' == Premolar aplasia, hyperhidrosis, and canities prematura; PHC syndrome == '''Definition''' == Book syndrome is a very rare type of ectodermal dys..."

2021-05-03T13:16:02Z

Created page with "== '''Alternate names''' == Premolar aplasia, hyperhidrosis, and canities prematura; PHC syndrome == '''Definition''' == Book syndrome is a very rare type of ectodermal dys..."

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== '''Alternate names''' ==
Premolar aplasia, hyperhidrosis, and canities prematura; PHC syndrome

== '''Definition''' ==
Book syndrome is a very rare type of [[ectodermal dysplasia]].

== '''Epidemiology''' ==
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''' ==
The cause is unknown.

== '''Inheritance''' ==
* 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''' ==
* 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''' ==
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''' ==
* 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''' ==

{{rarediseases}}
{{stb}}

Book syndrome - Revision history

Deepika vegiraju: Created page with "== '''Alternate names''' == Premolar aplasia, hyperhidrosis, and canities prematura; PHC syndrome == '''Definition''' == Book syndrome is a very rare type of ectodermal dys..."