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Alopecia, Nail Dystrophy, Vitiligo, and Hypoparathyroidism

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Challenging Cases in Dermatology Volume 2

Abstract

An adolescent girl and a baby boy presented with similar features of alopecia, nail dystrophy, progressive pigmentation, teeth abnormalities and vitiligo. The laboratory findings confirmed an extremely rare autosomal recessive disease.

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Bibliography

  1. Ahonen P, Myllarniemi S, Sipila I, et al. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med. 1990;322:1829–36.

    Article  CAS  Google Scholar 

  2. Bjorses P, Halonen M, Palvimo JJ, et al. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet. 2000;66:378–92.

    Article  CAS  Google Scholar 

  3. Bjorses P, Halonen M, Palvimo JJ, et al. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet. 2000;66:378–92.

    Article  CAS  Google Scholar 

  4. Brannstrom J, Hassler S, Peltonen L, et al. Defect internalization and tyrosine kinase activation in Aire deficient antigen presenting cells exposed to Candida albicans antigens. Clin Immunol. 2006;121:265–73.

    Article  Google Scholar 

  5. Collins SM, Dominguez M, Ilmarinen T, et al. Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Br J Dermatol. 2006;154:1088–93.

    Article  CAS  Google Scholar 

  6. Consortium TF-GA. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet. 1997;17:399–403.

    Article  Google Scholar 

  7. Dominguez M, Crushell E, Ilmarinen T, et al. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population. J Pediatr Endocrinol Metab. 2006;19:1343–52.

    Article  CAS  Google Scholar 

  8. Gylling M, Kaariainen E, Vaisanen R, et al. The hypoparathyroidism of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protective effect of the male sex. J Clin Endocrinol Metab. 2003;88:4602–8.

    Article  CAS  Google Scholar 

  9. Halonen M, Pelto-Huikko M, Eskelin P, et al. Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). J Histochem Cytochem. 2001;49:197–208.

    Article  CAS  Google Scholar 

  10. Halonen M, Eskelin P, Myhre AG, et al. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab. 2002;87:2568–74.

    Article  CAS  Google Scholar 

  11. Kisand K, Boe Wolff AS, Podkrajsek KT, et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med. 2010;207:299–308.

    Article  CAS  Google Scholar 

  12. Meriluoto T, Halonen M, Pelto-Huikko M, et al. The autoimmune regulator: a key toward understanding the molecular pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Keio J Med. 2001;50:225–39.

    Article  CAS  Google Scholar 

  13. Myllarniemi S, Perheentupa J. Oral findings in the autoimmune polyendocrinopathy-candidosis syndrome (APECS) and other forms of hypoparathyroidism. Oral Surg Oral Med Oral Pathol. 1978;45:721–9.

    Article  CAS  Google Scholar 

  14. Nagamine K, Peterson P, Scott HS, et al. Positional cloning of the APECED gene. Nat Genet. 1997;17:393–8.

    Article  CAS  Google Scholar 

  15. Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). In: Eriksson AW, Forsius HR, Workman PL, Norio RK, editors. Population structure and genetic disorders. London: Academic; 1980.

    Google Scholar 

  16. Perheentupa J. APS-I/APECED: the clinical disease and therapy. Endocrinol Metab Clin N Am. 2002;31(vi):295–320.

    Article  Google Scholar 

  17. Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2006;91:2843–50.

    Article  CAS  Google Scholar 

  18. Podkrajsek KT, Bratanic N, Krzisnik C, Battelino T. Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. J Clin Endocrinol Metab. 2005;90:4930–5.

    Article  CAS  Google Scholar 

  19. Puel A, Doffinger R, Natividad A, et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010;207:291–7.

    Article  CAS  Google Scholar 

  20. Rosatelli MC, Meloni A, Meloni A, et al. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet. 1998;103:428–34.

    Article  CAS  Google Scholar 

  21. Sato K, Nakajima K, Imamura H, et al. A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan. Endocr J. 2002;49:625–33.

    Article  CAS  Google Scholar 

  22. Scott HS, Heino M, Peterson P, et al. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Mol Endocrinol. 1998;12:1112–9.

    Article  CAS  Google Scholar 

  23. Stolarski B, Pronicka E, Korniszewski L, et al. Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence. Clin Genet. 2006;70:348–354; Weiler FG, Dias-da-Silva MR, Lazaretti-Castro M. Autoimmune polyendocrine syndrome type 1: case report and review of the literature. Arq Bras Endocrinol Metabol. 2012;56:54–66.

    Google Scholar 

  24. Tarkkanen A, Merenmies L. Corneal pathology and outcome of keratoplasty in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Acta Ophthalmol Scand. 2001;79:204–7.

    Article  CAS  Google Scholar 

  25. Ulinski T, Perrin L, Morris M, et al. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity. J Clin Endocrinol Metab. 2006;91:192–5.

    Article  CAS  Google Scholar 

  26. Ward L, Paquette J, Seidman E, et al. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy. J Clin Endocrinol Metab. 1999;84:844–52.

    CAS  PubMed  Google Scholar 

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El-Darouti, M.A., Al-Ali, F.M. (2019). Alopecia, Nail Dystrophy, Vitiligo, and Hypoparathyroidism. In: Challenging Cases in Dermatology Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-030-21855-3_27

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  • DOI: https://doi.org/10.1007/978-3-030-21855-3_27

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-21854-6

  • Online ISBN: 978-3-030-21855-3

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