Segmental Neurofibromatosis
Authors:
H. Jedličková 1; J. Feit 2
Authors‘ workplace:
I. dermatovenerologická klinika, FN U sv. Anny v Brně a LF MU
přednosta doc. MUDr. Vladimír Vašků, CSc.
1; Patologický ústav, FN Brno, LF MU
přednosta doc. MUDr. Josef Feit. CSc.
2
Published in:
Čes-slov Derm, 84, 2009, No. 3, p. 145-147
Category:
Case Reports
Overview
Segmental neurofibromatosis is a rare variant of neurofibromatosis limited to one or several body areas. It is caused by postzygotic mutation in the neurofibromatosis I gene, resulting in somatic mosaicism. A case of a young woman with segmental neurofibromatosis on the trunk and hypodontia is described.
Key words:
neurofibromatosis – segmental variant
Sources
1. Friedrich, RE., Giese, M., Schmelzle, R., Mautner, V-F., Scheuer, HA. Jaw malformations plus displacement and numerical aberrations of teeth in neurofibromatosis type 1: a descriptive analysis of 48 patients based on panoramic radiographs and oral findings. J Craniomaxillofac Surg, 2003, 31 (1), p.1-9.
2. KUMAR, S., KUMAR, RP. Multi-segmental neurofibromatosis. Indian J Dermatol Venereol Leprol, 2004, 70, p. 361-363.
3. Roth, RR., Martines, R., James, WD. Segmental neurofibromatosis. Arch Dermatol, 1987;123(7), p.917-920.
4. ruggieri, M., Huson, s. The clinical and diagnostic implications mosaicism in the neurofibromatoses. Neurology, 2001, 56, p. 1433-1443.
5. Seemanová, E. Segmentální neurofibromatóza (von Recklinghausenova choroba). Čes.-slov. Pediat, 2006, 61, 2, s. 712-714.
6. Schultz, ES., Kaufmann, D., Tinschert, S., Schell, H., Driesch, P., Schuler, G. Segmental neurofibromatosis. Dermatology, 2002, 204, p. 296-297.
7. Tinschert, S., Naumann, I., Stegmann, E., Buske, A., Kaufmann, D., Thiel, G., Jenne, dE. Segmental neurofbromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF 1) gene. Eur J Human Genetics, 2000, 8, p. 455-459.
8. viktor, FC. Segmental neurofibromatosis. Dermatology Online Journal, 11, (4),20.
9. Viskochil, D., Carey, JC. Alternate and related forms of the neurofibromatoses. In: Huson, SM & Hughes, RAC, eds. The Neurofibromatoses: A Pathogenic and Clinical Overview 19:University Press, Cambridge, UK. 1994, p. 445-474.
Labels
Dermatology & STDs Paediatric dermatology & STDsArticle was published in
Czech-Slovak Dermatology
2009 Issue 3
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