Böök syndrome
The Böök syndrome , also PHC syndrome called, is a very rare autosomal - dominant inherited disease from the group of ectodermal dysplasia . In the Anglo-Saxon specialist literature, the terms Book syndrome or PHC syndrome are often used.
description
Böök's syndrome is characterized by a deficit of premolars (premolar teeth), hyperhidrosis (excessive sweat production on the palms of the hands and fingers) and premature graying of the scalp hair ( canities praematura ) - usually in childhood.
The affected gene is located on chromosome 4 gene locus q12. The penetrance is very high to complete.
therapy
Treatment is usually symptomatic. A specific therapy is not known.
Initial description
The Böök syndrome was first described in 1950 by the Swedish human geneticist Jan Arvid Böök (1915–1995). Böök reported on 25 affected people from four generations in a Swedish family.
Individual evidence
- ↑ a b R. Witkowaski among others: Lexicon of Syndromes and Malformations. Verlag Springer, 2003, Springer, 2003, ISBN 3-540-44305-3 , p. 392.
- ^ S. Arte: Phenotypic and Genotypic Features of Familial Hypodontia. (PDF; 373 kB) Dissertation, University of Helsinki, 2001.
- ^ JA Böök: Clinical and genetic studies of hypodontia. I. Premolar aplasia, hyperhidrosis, and canities prematura. A new hereditary syndrome in man. In: Am. J. Hum. Genet. 2, 1950, pp. 240-263. PMID 14810689
literature
- R. Happle: Tooth anomalies in genodermatoses. In: Medical Genetics 19, 2007, pp. 407-413. doi : 10.1007 / s11825-007-0045-z
- CF Salinas et al: Congenitally missing teeth and severe hyperhidrosis: Book syndrome or a new ectodermal dysplasia syndrome? In: Dysmorph. Clin. Genet. 6, 1992, pp. 59-63.
Web links
- Böök syndrome. In: Online Mendelian Inheritance in Man . (English)
- Böök syndrome. In: Orphanet (Rare Disease Database).
