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MeSH Review

Cafe-au-Lait Spots

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Disease relevance of Cafe-au-Lait Spots


Psychiatry related information on Cafe-au-Lait Spots


High impact information on Cafe-au-Lait Spots


Chemical compound and disease context of Cafe-au-Lait Spots


Biological context of Cafe-au-Lait Spots


Anatomical context of Cafe-au-Lait Spots


Gene context of Cafe-au-Lait Spots


Analytical, diagnostic and therapeutic context of Cafe-au-Lait Spots

  • One patient had only cafe-au-lait spots, while the other patient had severe manifestations of NF1 in form of kyphoscoliosis, requiring multiple laminectomies, vertiginous attacks and optic radiation glioma seen on MRI [22].


  1. Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. Klose, A., Ahmadian, M.R., Schuelke, M., Scheffzek, K., Hoffmeyer, S., Gewies, A., Schmitz, F., Kaufmann, D., Peters, H., Wittinghofer, A., Nürnberg, P. Hum. Mol. Genet. (1998) [Pubmed]
  2. NF1 mutation analysis using a combined heteroduplex/SSCP approach. Abernathy, C.R., Rasmussen, S.A., Stalker, H.J., Zori, R., Driscoll, D.J., Williams, C.A., Kousseff, B.G., Wallace, M.R. Hum. Mutat. (1997) [Pubmed]
  3. Overexpression of thioredoxin in Fanconi anemia fibroblasts prevents the cytotoxic and DNA damaging effect of mitomycin C and diepoxybutane. Ruppitsch, W., Meisslitzer, C., Hirsch-Kauffmann, M., Schweiger, M. FEBS Lett. (1998) [Pubmed]
  4. Ullrich-Turner syndrome and neurofibromatosis-1. Schorry, E.K., Lovell, A.M., Milatovich, A., Saal, H.M. Am. J. Med. Genet. (1996) [Pubmed]
  5. Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots. Brunner, H.G., Hulsebos, T., Steijlen, P.M., der Kinderen, D.J., vd Steen, A., Hamel, B.C. Am. J. Med. Genet. (1993) [Pubmed]
  6. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Weemaes, C.M., Hustinx, T.W., Scheres, J.M., van Munster, P.J., Bakkeren, J.A., Taalman, R.D. Acta paediatrica Scandinavica. (1981) [Pubmed]
  7. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Colman, S.D., Williams, C.A., Wallace, M.R. Nat. Genet. (1995) [Pubmed]
  8. A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. Whiteside, D., McLeod, R., Graham, G., Steckley, J.L., Booth, K., Somerville, M.J., Andrew, S.E. Cancer Res. (2002) [Pubmed]
  9. Overexpressed thioredoxin compensates Fanconi anemia related chromosomal instability. Kontou, M., Adelfalk, C., Ramirez, M.H., Ruppitsch, W., Hirsch-Kauffmann, M., Schweiger, M. Oncogene (2002) [Pubmed]
  10. "Café-au-lait spots" caused by vitiligo in McCune-Albright syndrome. Whyte, M.P., Podgornik, M.N., Zerega, J., Reinus, W.R. J. Bone Miner. Res. (2000) [Pubmed]
  11. Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele. Rodríguez, L., Cuadrado Pérez, I., Herrera Montes, J., Lorente Jareño, M.L., López Grondona, F., Martínez-Frías, M.L. Am. J. Med. Genet. (2002) [Pubmed]
  12. Gastro-cutaneous syndrome: peptic ulcer/hiatal hernia, multiple lentigines/café-au-lait spots, hypertelorism, and myopia. Halal, F., Gervais, M.H., Baillargeon, J., Lesage, R. Am. J. Med. Genet. (1982) [Pubmed]
  13. Vitamin D3 analogues improve café au lait spots in patients with von Recklinghausen's disease: experimental and clinical studies. Nakayama, J., Kiryu, H., Urabe, K., Matsuo, S., Shibata, S., Koga, T., Furue, M. European journal of dermatology : EJD. (1999) [Pubmed]
  14. Effective aromatase inhibition by anastrozole in a patient with gonadotropin-independent precocious puberty in McCune-Albright syndrome. Roth, C., Freiberg, C., Zappel, H., Albers, N. Journal of pediatric endocrinology & metabolism : JPEM. (2002) [Pubmed]
  15. Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome. Zen, P.R., Pinto, L.L., Graziadio, C., Pereira, V.B., Paskulin, G.A. Clin. Dysmorphol. (2005) [Pubmed]
  16. Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Heim, R.A., Kam-Morgan, L.N., Binnie, C.G., Corns, D.D., Cayouette, M.C., Farber, R.A., Aylsworth, A.S., Silverman, L.M., Luce, M.C. Hum. Mol. Genet. (1995) [Pubmed]
  17. Familial multiple cafe au lait spots. Arnsmeier, S.L., Riccardi, V.M., Paller, A.S. Archives of dermatology. (1994) [Pubmed]
  18. Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome? Al-Sannaa, N., Forrest, C.R., Teebi, A.S. Am. J. Med. Genet. (2001) [Pubmed]
  19. Outcome of Sturge-Weber syndrome in 52 adults. Sujansky, E., Conradi, S. Am. J. Med. Genet. (1995) [Pubmed]
  20. Juvenile xanthogranuloma: an analysis of 45 cases by clinical follow-up, light- and electron microscopy. Török, E., Daróczy, J. Acta Derm. Venereol. (1985) [Pubmed]
  21. Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patient. Young, I.D., Barrow, M., Hall, C.M. Am. J. Med. Genet. A (2004) [Pubmed]
  22. Hearing loss in neurofibromatosis type 1: report of two cases. Shamboul, K., Grundfast, K. East African medical journal. (1999) [Pubmed]
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