Beare Stevenson Cutis Gyrata Syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Beare-Stevenson cutis-gyrate syndrome is a very rare congenital disease with a combination of cutis gyrate verticis , acanthosis nigricans and craniosynostosis .

The name refers to the first authors of the first description from 1969 by the Irish pediatrician JM Beare and co-workers and from 1978 by the American pediatrician Roger E. Stevenson and co-workers.

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 20 people have been reported. The inheritance is autosomal dominant .

root cause

Of the disease are mutations in FGFR2 - gene on chromosome 10 locus q26.13 based, which for the fibroblast growth factor encoded receptor 2 (FGFR2).

This gene is involved in a variety of diseases:

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis results from the clinical examination and can be confirmed by genetic evidence of the mutation.

literature

  • N. Ron, S. Leung, E. Carney, A. Gerber, KL David: A Case of Beare-Stevenson Syndrome with Unusual Manifestations. In: The American Journal of Case Reports. Volume 17, April 2016, pp. 254-258, PMID 27079505 , PMC 4835158 (free full text).
  • CJ Percival, Y. Wang, X. Zhou, EW Jabs, JT Richtsmeier: The effect of a Beare-Stevenson syndrome Fgfr2 Y394C mutation on early craniofacial bone volume and relative bone mineral density in mice. In: Journal of anatomy. Volume 221, number 5, November 2012, pp. 434-442, doi: 10.1111 / j.1469-7580.2012.01555.x , PMID 22881429 , PMC 3482351 (free full text).
  • Y. Wang, X. Zhou, K. Oberoi, R. Phelps, R. Couwenhoven, M. Sun, A. Rezza, G. Holmes, CJ Percival, J. Friedenthal, P. Krejci, JT Richtsmeier, DL Huso, M Rendl, EW Jabs: p38 Inhibition of ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. In: The Journal of clinical investigation. Volume 122, number 6, June 2012, pp. 2153-2164, doi: 10.1172 / JCI62644 , PMID 22585574 , PMC 3366414 (free full text).
  • YC Tao, AM Slavotinek, K. Vargervik, S. Oberoi: Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes. In: The Cleft palate-craniofacial journal: official publication of the American Cleft Palate-Craniofacial Association. Volume 47, Number 3, May 2010, pp. 253-258, doi: 10.1597 / 08-282.1 , PMID 19860525 .
  • M. Weissensteiner, O. Wagner, R. Seimann, E. Lechner, K. Hroncek, G. Wiesinger: The Beare-Stevenson Syndrome - a case report. In: Journal of Obstetrics and Neonatology. 213, 2009, doi: 10.1055 / s-0029-1223071 .
  • J. McGaughran, S. Sinnott, R. Susman, MF Buckley, G. Elakis, T. Cox, T. Roscioli: A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype. In: Clinical dysmorphology. Volume 15, Number 2, April 2006, pp. 89-93, doi: 10.1097 / 01.mcd.0000194407.92676.9d , PMID 16531735 (review).

Individual evidence

  1. ↑ a b c Cutis gyrata - Acanthosis nigricans - Craniosynostosis. In: Orphanet (Rare Disease Database).
  2. ↑ JM Beare, JA Dodge, NC Nevin: Cutis gyratum, acanthosis nigricans and other congenital anomalies. A new syndrome. In: The British journal of dermatology. Volume 81, Number 4, April 1969, pp. 241-247, PMID 5781468 .
  3. ↑ RE Stevenson, GJ Ferlauto, HA Taylor: Cutis gyratum and acanthosis nigricans associated with other anomalies: a distinctive syndrome. In: The Journal of pediatrics. Volume 92, Number 6, June 1978, pp. 950-952, PMID 660365 .
  4. ^ Genetics Home Reference
  5. ↑ Beare-Stevenson cutis gyrata syndrome.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ FGFR2.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ FGFR2-dependent dysplasia with curved bones. In: Orphanet (Rare Disease Database). .
  8. ↑ Lakrimo-auriculo-dento-digital syndrome. In: Orphanet (Rare Disease Database).

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