Neurofibromatosis from the View of Dermatologist

Czech version

Authors: D. Humhejová ¹; B. Petrák ²
Authors‘ workplace: Kožní oddělení, Masarykova nemocnice v Ústí nad Labem o. z., Krajská zdravotní a. s. primář MUDr. Olga Filipovská ¹; Klinika dětské neurologie 2. LF UK a FN Motol, Praha přednosta prof. MUDr. Vladimír Komárek, CSc. ²
Published in: Čes-slov Derm, 90, 2015, No. 3, p. 95-109
Category: Reviews (Continuing Medical Education)

Overview

Neurofibromatosis is a relatively common autosomal dominant hereditary neuro-cutaneous disease caused by mutation in tumor-suppressor genes. It results in the development of multiple hamartomas, benign and malignant tumors. The disease is currently classified into 3 individual subunits with different clinical presentations based on mutations of different genes – neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. The most common type is NF1. The symptoms are age-dependent, the severity of clinical picture is variable. Cutaneous symptoms are present namely in NF1, they are less common in other types. They include multiple café-au-lait spots and axillary and inguinal freckling. Neurofibromas, plexiform neurofibromas and optic gliomas are present in NF1, Lisch nodules in the iris are pathognomonic. Vestibular schwannomas are typical for NF2, and multiple schwannomas in peripheral nerves are present in schwannomatosis. The prognosis differs and is based on the clinical picture and complications. Diagnostic criteria play a key role in differentiating various types of neurofibromatosis and dermatological examination plays a key role. Patients should be concentrated in specialized centers. The treatment of neurofibromatosis is symptomatic.

Key words:
neurofibromatosis – café-au-lait spot – freckling – neurofibroma – schwannoma – glioma – specialized centers specialized care

Sources

1. ANTONIO, J. R., GOLONI, B., TRIDICO, L. A. Neurofibromatosis: chronological history and current issues. An. Bras. Dermatol., 2013, 88 (3), p. 329–343.

2. BOYD, K. P., KORF, B. R., THEOS, A. Neurofibromatosis type 1. J. Am. Acad. Dermatol., 2009, 61 (1), p. 1–16.

3. Brems, H., Pasmant, E., Van Minkelen, R., Wimmer, K., Upadhyaya, M., Legius, E., Messiaen, L. Review and Update of SPRED1 Mutations Causing Legius Syndrome. Hum Mutat, 2012, 33, p. 1538–1546.

4. De Luca, A., Bottillo, I., Sarkozy, A., Carta, C., Neri, C., Bellacchio, E., Schirinzi, A., Conti, E., Zampino, G., Battaglia, A., Majore, S., Rinaldi, M. M., Carella, M., Marino, B., Pizzuti, A., Digilio, M. C., Tartaglia, M., Dallapiccola, B. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am. J. Hum. Genet., 2005, 77, p. 1092–1101.

5. Evans, D. G. R., Baser, M. E., McGaughran, J., Sharif, S., Howard, E., Moran, A. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J. Med. Genet., 2002, 39, p. 311–314.

6. FERNER, R., HUSON, S., THOMAS, N. et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J. Med. Genet., 2007, 44, p. 81–88.

7. Goldstein, J., Gutmann, D. Neurofibromatosis type 1. In Roach, E. S., Miller, V. S., ed. Neurocutaneous Disorders. Cambridge University Press, U. K., 2004, p. 42–49.

8. JEDLIČKOVÁ, H. Segmentální neurofibromatóza. Čes-slov Derm, 2009, 84, No. 3, s. 145–147.

9. Leisti, E. L. Radiologic findings of the head and spine in neurofibromatosis 1 (NF1) in Northern Finland. Academic Dissertation. Oulu, Finland, University of Oulu and Oulu Universtity Hospital, 2003.

10. LUK, D. C., LAM, S. Y., CHEUNG, P. C., CHAN, B. H. Dermoscopy for common skin problems in Chinese children using a novel Hong Kong-made dermoscope. Hong Kong Med. J., 2014, 20 (6), p. 495–503.

11. MacCollin, M., Chiocca, E. A., Evans, D. G. R. et al. Diagnostic criteria for schwannomatosis. Neurology, 2005, 64, p. 1838–1845.

12. MADSON, J. Multiple or familial café-au-lait spots is neurofibromatosis type 6: Clarification of a diagnosis. Dermatol. Online J., 18 (5), 4.

13. Maria, B. L., Menkes, J. H. Neurocutaneous Syndromes. In Menkes, J. H., Sarnat, H. B., Maria, B. L. eds. Child Neurology, Philadelphia, Lippincott Williams Wilkins, 2005, p. 803–828.

14. Mulvihill, J. J., Parry, D. M., Sherman, J. L., Pikus, A., Kaiser-Kupfer, M. I., Eldridge, R. N. I. H Conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. Ann. Intern. Med., 1990, 113, p. 39–52.

15. National Institute of Health Consensus Development Conference. Neurofibromatosis: Conference Statement. Arch. Neurol. Chicago, 1988, 45, p. 575–578.

16. PATIL, S., CHAMBERLAIN, R. S. Neoplasms Associated with Germline and Somatic NF1 Gene Mutations. The Oncologist, 2012, 17, p. 101–116.

17. PETRÁK, B., BENDOVÁ, Š., LISÝ, J., KRAUS, J., ZATRAPA, T., GLOMBOVÁ, M., ZÁMEČNÍK, J. Neurofibromatosis von Recklinghausen typ 1 (NF1) – klinický obraz a molekulárně-genetická diagnostika. Cesk. Patol., 2015, 51 (1), s. 34–40.

18. PETRÁK, B., PLEVOVÁ, P., NOVOTNÝ, J., FORETOVÁ, L. Neurofibromatotis von Recklinghausen. Klin. Onkol., 2009, 22 (Suppl), s. 38–44.

19. PIZINGER, K. Kožní pigmentové projevy. 1. vyd. Praha: Grada Publishing, 2003, s. 31–32, ISBN 80-247-0616-4.

20. RUGGIERI, M. The different forms of neurofibromatosis. Child’s Nerv. Syst., 1999, 15, p. 295–308.

21. SEIDL, Z., VANĚČKOVÁ, M. Neuroradiologické vyšetřovací metody v diagnostice a jejich přínos pro další klinické vedení nemocných s neurokutánním onemocněním (fakomatózy, neurovývojová onemocnění). Neurol. Praxi, 2004, 2, s. 85–90.

22. SHAH, K. N. The Diagnostic and Clinical Significance of Café-au-lait Macules. Pediatr. Clin. North. Am., 2010, 57 (5), p. 1131–1153.

23. SPITZ, J. Genodermatoses. A Clinical Guide to Genetic Skin Disorders, second edition: Philadelphia, Lippincott Williams Wilkins, 2004. p. 80–87, ISBN-13: 978-0781740883.

24. ŠTORK., J. et al. Dermatovenerologie.1. vyd. Praha: Galén, 2008, s. 341, 364–365, 408, ISBN 978-80-7262-371-6.

25. Thiel, C., Wilken, M., Zenker, M., Sticht, H., Fahsold, R., Gusek-Schneider, G. C., Rauch, A. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am. J. Med. Genet., 2009, 149A, p. 1263–1267.

26. WILLIAMS, V., LUCAS, J., BABCOCK, M., GUTMANN, D., KORF, B., MARIA, B. Neurofibromatosis Type 1 Revisited. Pediatrics, 2009, 123 (1), p. 124–133.

Labels

Dermatology & STDs Paediatric dermatology & STDs

Latent Tuberculosis Infection and Biological Therapy

Agminated Histiocytomas

Fibroepithelioma Pinkus

Erythema of the Glans Penis

Article was published in

Czech-Slovak Dermatology

2015 Issue 3