Böök syndrome Q82.4

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

Rare disease with a prevalence <1:1,000,000.

The cause is a mutation of a gene on chromosome 4, gene locus 4q12.

First description in a Swedish family with 25 affected persons from 4 generations.

1. 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
2. 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
3. Weyers H (1972) The PHC-syndrome. Dental practice 23:291-292