Skin abnormalities in neurofibromatosis 2

Archives of Dermatology

Volumn 133, Issue 12, 1997, Pages 1539-1543

  Mautner, Victor F ^a   Lindenau, Matthias ^a   Baser, Michael E ^a,c   Kluwe, Lan ^a   Gottschalk, Joachim ^b  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b Pathological Department   (Germany)

^c NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; DISEASE SEVERITY; DYSPLASIA; FEMALE; GENE MUTATION; HISTOPATHOLOGIC SKIN REACTION; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROFIBROMATOSIS; PREVALENCE; PRIORITY JOURNAL; PROTO ONCOGENE; SKIN MANIFESTATION; SKIN TUMOR; TUMOR SUPPRESSOR GENE;

EID: 0030811426     PISSN: 0003987X     EISSN: None     Source Type: Journal    
DOI: 10.1001/archderm.133.12.1539     Document Type: Article

References (22)

1. Trofatter JA, MacCollin MM, Rutter JL, et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell. 1993; 72:791-800.
2. Rouleau GA, Merel P, Lutchman M, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature. 1993;363:515-521.
3. Evans DGR, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med. 1992;84:603-618.
4. Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet. 1994;52:450-461.
5. Mérel P, Hoang-Xuan K, Sanson M, et al. Screening for germ-line mutations in the NF2 gene. Genes Chromosomes Cancer. 1995;12:117-127.
6. Ruttledge MH, Andermann AA, Phelan CM, et al. Type of mutation in the neurofibromatosis 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet. 1996;59:331-342.
7. Parry DM, MacCollin M, Kaiser-Kupfer MI, et al. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet. 1996;59:529-539.
8. Baser ME, Mautner VF, Ragge NK, et al. Presymptomatic diagnosis in neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations. Neurology. 1996;47:1269-1279.
9. Neurofibromatosis Conference Statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988;45:575-578.
10. Martuza RL, Eldridge R. Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). N Engl J Med. 1988;318:684-688.
11. Halliday AL, Sobel RA, Martuza RL. Benign spinal nerve sheath tumors: their occurrence sporadically and in neurofibromatosis types 1 and 2. J Neurosurg. 1991; 74:248-253.
12. Enzinger FM, Weiss SW. Soft Tissue Tumors. 2nd ed. St Louis, Mo: Mosby-Year Book Inc; 1988.
13. Wiestler OD, von Siebenthal K, Schmitt HP, Feiden W, Kleihues P. Distribution and immunoreactivity of cerebral micro-hamartomas in bilateral acoustic neurofibromatosis (neurofibromatosis 2). Acta Neuropathol. 1989;79:137-143
14. Tonsgard JH, Oesterle CS. The ophthalmologic presentation of NF-2 in childhood. J Pediatr Ophthalmol Strabismus. 1993;30:327-330
15. Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement on Acoustic Neuroma, December 11-13, 1991. Arch Neurol. 1994;51:201-207.
16. Kluwe L, Beyer S, Baser ME, et al. Identification of NF2 germ-line mutations and comparison with NF2 phenotypes. Hum Genet. 1996;98:534-538.
17. Kleihues P, Burger PC, Scheithauer BW. Histological Typing of Tumours of the Central Nervous System. 2nd ed. New York, NY: Springer-Verlag NY Inc; 1993.
18. Weiss SW. Histological Typing of Soft Tissue Tumours. 2nd ed. New York, NY: Springer-Verlag NY Inc; 1994.
19. Sobel RA, Wang Y. Vestibular (acoustic) schwannomas: histologic features in neurofibromatosis 2 and in unilateral cases. J Neuropathol. 1993;52:106-113.
20. Mautner VF, Hazim W, Pohlmann K, Berger R, Kluwe L, Haase W. Ophthalmologisches Spektrum der Neurofibromatose Typ 2 im Kindesalter. Klin Monatsbl Augenheilkd. 1996;208:58-62.
21. Tikoo A, Varga M, Ramesh V, Gusella J, Maruta H, An anti-ras function of neurofibromatosis type 2 gene product (NF2/merlin). J Biol Chem. 1994;269:23387-23390.
22. Lutchman M, Rouleau GA. The neurofibromatosis 2 gene product, schwannomin, suppresses growth of NIH 3T3 cells. Cancer Res. 1995;55:2270-2274.