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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

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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.

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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 & STDs
Topics Journals
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