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Classic Form of Ehlers-Danlos Syndrome


Authors: J. Drochytková 1;  L. Fajkusová 2;  L. Kopečková 2;  K. Veselý 3;  R. Beharka 4;  H. Bučková 1
Authors‘ workplace: Dětské kožní oddělení PEK FN Brno a LF MU v Brně prim. MUDr. Hana Bučková, Ph. D. 1;  Centrum molekulární biologie a genové terapie IHOK FN Brno a LF MU v Brně vedoucí sekce vrozených genetických chorob doc. RNDr. Lenka Fajkusová, CSc. 2;  AeskuLab Patologie, k. s., Laboratoř Brno vedoucí pracoviště MUDr. Karel Veselý, Ph. D. 3;  Oddělení lékařské genetiky FN Brno a LF MU v Brně prim. MUDr. Renata Gaillyová, Ph. D. 4
Published in: Čes-slov Derm, 92, 2017, No. 5, p. 221-228
Category: Case Reports

Overview

Ehlers-Danlos syndromes belong to the group of inherited connective tissue disorders characterized by increased skin elasticity, joint hypermobility, cutaneous fragility with formation of pseudotumors and gaping scars. Original classification by Villefranche (1997) divided Ehlers-Danlos syndrome into 6 groups. New classification (2017) supported by molecular analysis distinguishes 13 subtypes of Ehlers-Danlos syndromes. We present a case of 4-year old boy with classic EDS confirmed by histological skin examination and DNA analysis revealing yet non- published mutation (sequence variant) c.1048insG p.Ser350Cysfs*4 in the 7th exon of the COL5A1 gene.

Key words:
Ehlers-Danlos syndromes – skin hyperextensibility – generalised joint hypermobility – DNA analysis – new station (sequence variant) – new EDS classification 2017


Sources

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2. BOWEN, J. M., SOBEY, G. J., BURROWS, G. J. et al. Ehlers–Danlos syndrome, classical type. Am. J. Med. Genet. Part C Semin. Med. Genet., 2017, 175C, p. 27–39.

3. LANE, A. T., MORELLI, J. G., WESTON, W. L. Textbook of Pediatric Dermatology. 4. vyd. Philadelphia: Elsevier, 2007. p. 339–342. ISBN 9780323049092.

4. MALFAIT, F., WENSTRUP, R. J., DE PAEPE, A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet. Med., 2010, 12, 10, p. 597–605.

5. MALFAIT, F., FRANCOMANO, C., BYERS, P. et al. The 2017 international classification of the Ehlers- -Danlos syndromes. Am. J. Med. Genet. Part C Semin. Med. Genet. 2017, 175, 1, p. 8–26.

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Labels
Dermatology & STDs Paediatric dermatology & STDs
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