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
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.
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.
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.
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.
Collins SM, Dominguez M, Ilmarinen T, et al. Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Br J Dermatol. 2006;154:1088–93.
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.
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.
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.
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.
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.
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.
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.
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.
Nagamine K, Peterson P, Scott HS, et al. Positional cloning of the APECED gene. Nat Genet. 1997;17:393–8.
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.
Perheentupa J. APS-I/APECED: the clinical disease and therapy. Endocrinol Metab Clin N Am. 2002;31(vi):295–320.
Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2006;91:2843–50.
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.
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.
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.
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.
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.
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.
Tarkkanen A, Merenmies L. Corneal pathology and outcome of keratoplasty in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Acta Ophthalmol Scand. 2001;79:204–7.
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.
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.
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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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