Björnstad syndrome
Classification according to ICD-10 | |
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Q84.1 | Congenital morphological disorders of hair, not elsewhere classified |
ICD-10 online (WHO version 2019) |
The Bjornstad syndrome is a very rare congenital disease with a combination of pili torti (flat and twisted at irregular intervals hair) with congenital hearing loss
Synonym : Pili torti and hearing loss
The name refers to the author of the first description from 1965 by the Norwegian dermatologist Roar Th. Björnstad .
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
The disease are mutations in BCS1L - gene in chromosome 2 locus q35 based.
Changes in this gene are also involved in GRACILE syndrome and cytochrome c reductase deficiency.
Clinical manifestations
Clinical criteria are:
- hair twisted like a screw and increasingly brittle
- congenital profound inner ear hearing loss
- possibly hypogonadism
literature
- T. Yanagishita, K. Sugiura, Y. Kawamoto, K. Ito, Y. Marubashi, N. Taguchi, M. Akiyama, D. Watanabe: A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene. In: The British journal of dermatology. Vol. 170, No. 4, April 2014, pp. 970-973, doi: 10.1111 / bjd.12736 , PMID 24236502 .
- S. Siddiqi, S. Siddiq, A. Mansoor, J. Oostrik, N. Ahmad, SA Kazmi, H. Kremer, R. Qamar, M. Schraders: Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. In: Journal of Human Genetics. Vol. 58, No. 12, December 2013, pp. 819-821, doi: 10.1038 / jhg.2013.101 , PMID 24172246 .
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b c Bjönrstad syndrome. In: Orphanet (Rare Disease Database).
- ^ R. Björnstad: Pili torti and sensory-neural loss of hearing. In: Proceedings of the 7th Meeting Northern Dermatology Society , Copenhagen May-29, 1965.
- ↑ Bjornstad syndrome. In: Online Mendelian Inheritance in Man . (English).