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Synonym(s)
Book syndrome; MIM 112300; PHC Syndrome
DefinitionThis section has been translated automatically.
The Böök syndrome is a very rare autosomal dominant hereditary disease from the group of ectodermal dysplasias with:
- Aplasia of the premolars
- Palmoplantar keratoses
- Hyperhidrosis
- Canities praecox until 20 or 30.LJ
Facultative:
- Trigeminal neuraligia
Occurrence/EpidemiologyThis section has been translated automatically.
Rare disease with a prevalence <1:1,000,000.
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EtiopathogenesisThis section has been translated automatically.
The cause is a mutation of a gene on chromosome 4, gene locus 4q12.
Note(s)This section has been translated automatically.
First description in a Swedish family with 25 affected persons from 4 generations.
LiteratureThis section has been translated automatically.
- Book J A (1950) Clinical and genetic studies of hypodontia. I. Premolar aplasia, hyperhidrosis, and canities prematura: a new hereditary syndrome in man. At J Hum Genet 2: 240-263
- Salinas C F et al (1992) Congenitally missing teeth and severe hyperhidrosis: Book syndrome or a new ectodermal dysplasia syndrome? J. Dysmorph Clin Genet 6: 59-63
- Weyers H (1972) The PHC-syndrome. Dental practice 23:291-292
Recommended articles
Incoming links (1)
Premature canities;Outgoing links (1)
Premature canities;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer