Skip to main content
SpringerLink
Log in

Rare Inherited Diseases and Vitiligo

  • Chapter
Vitiligo

  • 1713 Accesses

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 249.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Notes

  1. 1.

    Recently however, the haplotype AIRE CGCC has been associated with vitiligo in a case-control study [13].

References

  1. Palmer CN, Irvine AD, Terron-Kwiatkowski A et al (2006) Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 38:441–446

    Article  PubMed  CAS  Google Scholar 

  2. Blumen SC, Bevan SN, Abu-Mouch S et al (2003) A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann Neurol 54:796–803

    Article  PubMed  Google Scholar 

  3. Kulkarni ML, Baskar K, Kulkarni PM (2007) A syndrome of immunodeficiency, autoimmunity, and spondylometaphy-seal dysplasia. Am J Med Genet 143A:69–75

    Article  Google Scholar 

  4. Halder RM, Grimes PE, Cowan CA et al (1987) Childhood vitiligo. J Am Acad Dermatol 16:948–954

    Article  PubMed  CAS  Google Scholar 

  5. Taïeb A, Picardo M; VETF Members (2007) The definition and assessment of vitiligo: a consensus report of the Vitiligo European Task Force. Pigment Cell Res 20:27–35

    Article  PubMed  Google Scholar 

  6. Richards KA, Fukai K, Oiso N et al (2001) A novel KIT mutation results in piebaldism with progressive depigmenta-tion. J Am Acad Dermatol 44:288–292

    Article  PubMed  CAS  Google Scholar 

  7. Alkhateeb A, Fain PR, Spritz RA (2005) Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo. J Invest Derm 125:388–391

    PubMed  CAS  Google Scholar 

  8. Hedstrand H, Perheentupa J, Ekwall O et al (1999) Antibodies against hair follicles are associated with alopecia totalis in autoimmune polyendocrine syndrome type I. J Invest Dermatol 113:1054–1058

    Article  PubMed  CAS  Google Scholar 

  9. Tobin DJ, Bystryn JC (1996) Different populations of mel-anocytes are present in hair follicles and epidermis. Pigment Cell Res 9:304–310

    Article  PubMed  CAS  Google Scholar 

  10. Husebye ES, Gebre-Medhin G, Tuomi TM et al (1997) Autoantibodies against aromatic l-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 82:147–150

    Article  PubMed  CAS  Google Scholar 

  11. Hasse S, Gibbons NC, Rokos H et al (2004) Perturbed 6-tet-rahydrobiopterin recycling via decreased dihydropteridine reductase in vitiligo: more evidence for H2O2 stress. J Invest Dermatol 122:307–313

    Article  PubMed  CAS  Google Scholar 

  12. Ekwall O, Hedstrand H, Haavik J et al (2000) Pteridin-dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 85:2944–2950

    Article  PubMed  CAS  Google Scholar 

  13. Tazi-Ahnini R, McDonagh AJ, Wengraf DA, Lovewell TR, Vasilopoulos Y, Messenger AG, Cork MJ, Gawkrodger DJ (2008) The autoimmune regulator gene (AIRE) is strongly associated with vitiligo. Br J Dermatol 159:591–596

    PubMed  CAS  Google Scholar 

  14. Betterle C, Dal Pra C, Mantero F, Zanchetta R (2002) Autoimmune adrenal insufficiency and autoimmune polyen-docrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev 23:327–364

    Article  PubMed  CAS  Google Scholar 

  15. Alimohammadi M, Björklund P, Hallgren A et al (2008) Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 358:1018–1028

    Article  PubMed  CAS  Google Scholar 

  16. Taieb A (2007) NALP1 and the inflammasomes: challenging our perception of vitiligo and vitiligo-related autoimmune disorders. Pigment Cell Res 20:260–262

    Article  PubMed  Google Scholar 

  17. Kunin AS, MacKay BR, Burns S et al (1963) The syndrome of hypoparathyroidism and adrenocortical insufficiency, a possible sequel of hepatitis. Am J Med 34:856–865

    Article  Google Scholar 

  18. Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA (2007) NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med 356:1216–1225

    Article  PubMed  CAS  Google Scholar 

  19. Halonen M, Eskelin P, Myhre AG et al (2002) AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab 87:2568–2574

    Article  PubMed  CAS  Google Scholar 

  20. Heuss D, Engelhardt A, Gobel H et al (1995) Myopathological findings in interstitial myositis in type II polyendocrine autoimmune syndrome (Schmidt's syndrome). Neurol Res 17:233–237

    PubMed  CAS  Google Scholar 

  21. Eisenbarth GS, Wilson PW, Ward F et al (1978) The polyg-landular failure syndrome: disease inheritance, HLA type, and immune function: studies in patients and families. Ann Intern Med 91:528–533

    Google Scholar 

  22. Zeviani M, Muntoni F, Savarese N et al (1993) A MERRF/ MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet 1:80–87

    PubMed  CAS  Google Scholar 

  23. Latkany P, Ciulla TA, Cacchillo PF et al (1999) Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. Am J Ophthalmol 128:112–114

    Article  PubMed  CAS  Google Scholar 

  24. Karvonen SL, Haapasaari KM, Kallioinen M et al (1999) Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 243 mutation in mitochondrial DNA in the mitochondrial encephalomyopa-thy, lactic acidosis and stroke-like episodes syndrome (MELAS). Br J Dermatol 140:634–639

    Article  PubMed  CAS  Google Scholar 

  25. Matsuoka T, Goto Y, Yoneda M et al (1991) Muscle histopa-thology in myoclonus epilepsy with ragged-red fibers (MERRF). J Neurol Sci 106:193–198

    Article  PubMed  CAS  Google Scholar 

  26. Berneburg M, Grether-Beck S, Kürten V et al (1999) Singlet oxygen mediates the UVA-induced generation of the photo-aging-associated mitochondrial common deletion. J Biol Chem 274:15345–15349

    Article  PubMed  CAS  Google Scholar 

  27. Cohen LE, Tanner DJ, Schaefer HG et al (1984) Common and uncommon cutaneous findings in patients with ataxia-telangiectasia. J Am Acad Dermatol 10:431–438

    Article  PubMed  CAS  Google Scholar 

  28. Taieb A (2000) Intrinsic and extrinsic pathomechanisms in vitiligo. Pigment Cell Res 13:41–47

    Article  PubMed  Google Scholar 

  29. Kim DH, Kim CW, Kim TY (1999) Vitiligo at the site of radiotherapy for malignant thymoma. Acta Derm Venereol 79:497

    Article  PubMed  CAS  Google Scholar 

  30. Watts, JA, Morley M, Burdick JT et al (2002) Gene expression phenotype in heterozygous carriers of ataxia telangi-ectasia. Am J Hum Genet 71:791–800

    Article  PubMed  Google Scholar 

  31. Barlow C, Dennery PA, Shigenaga MK et al (1999) Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs. Proc Nat Acad Sci 96:9915–9919

    Article  PubMed  CAS  Google Scholar 

  32. Wong KK, Maser RS, Bachoo RM et al (2003) Telomere dysfunction and Atm deficiency compromises organ homeo-stasis and accelerates ageing. Nature 421:643–648

    Article  PubMed  CAS  Google Scholar 

  33. Shackelford RE, Innes CL, Sieber SO et al (2001) The ataxia telangiectasia gene product is required for oxidative stress-induced G1 and G2 checkpoint function in human fibro-blasts. J Biol Chem 276:21951–21959

    Article  PubMed  CAS  Google Scholar 

  34. Barlow C, Hirotsune S, Paylor R et al (1996) Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 86:159–171

    Article  PubMed  CAS  Google Scholar 

  35. Elson A, Wang Y, Daugherty CJ et al (1996) Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Proc Nat Acad Sci 93:13084–13089

    Article  PubMed  CAS  Google Scholar 

  36. Jung M, Zhang Y, Lee S, Dritschilo A (1995) Correction of radiation sensitivity in ataxia telangiectasia cells by a truncated I-kappa-B-alpha. Science 268:1619–1621

    Article  PubMed  CAS  Google Scholar 

  37. Barlow C, Eckhaus MA, Schaffer AA et al (1999) Atm hap-loinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in mice. Nature Genet 21:359–360

    Article  PubMed  CAS  Google Scholar 

  38. The International Nijmegen Breakage Syndrome Study Group (2000) Nijmegen breakage syndrome. Arch Dis Child 82:400–406

    Article  Google Scholar 

  39. Eisenbarth GS, Gottlieb PA (2004) Autoimmune polyendo-crine syndromes. New Engl J Med 350:2068–2079

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Service de Dermatologie, Hôpital St André, CHU de Bordeaux, France

    Alain Taïeb

  2. Service de Dermatologie De Dermatologie Pédiatrique, Centre de référence des maladies rares de la Peau Hôpital Saint-André, 1 rue Jean Burguet, Bordeaux, 33000, France

    Fanny Morice-Picard

Authors
  1. Alain Taïeb
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Fanny Morice-Picard
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Alain Taïeb .

Editor information

Editors and Affiliations

  1. Istituto Dermatologico San Gallicano, via Elio Chianesi 53, Roma, 00144, Italy

    Mauro Picardo

  2. Service de Dermatologie De Dermatologie Pédiatrique, Centre de référence des maladies rares de la Peau Hôpital Saint-André, 1 rue Jean Burguet, Bordeaux, 33000, France

    Alain Taïeb

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Taïeb, A., Morice-Picard, F. (2010). Rare Inherited Diseases and Vitiligo. In: Picardo, M., Taïeb, A. (eds) Vitiligo. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69361-1_14

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-69361-1_14

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-69360-4

  • Online ISBN: 978-3-540-69361-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation