 |
Publisher: Peytchinski Publishing Ltd.
ISSN: 1312-773X (Online)
Issue: 2024, vol. 30, issue4
Subject Area: Dental Medicine
-
DOI: 10.5272/jimab.2024304.5806
Published online: 11 October 2024
Case report
J of IMAB. 2024 Oct-Dec;30(4):5806-5810
ORAL FINDINGS AND CLINICAL BEHAVIOR IN PATIENT HAVING AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY (APECED)
Kremena Markova
, Nikolay Simeonov,
Department of Operative Dentistry and Endodontics, Faculty of Dental Medicine, Medical University of Plovdiv, Bulgaria.
ABSTRACT:
Introduction: APECED (Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) is a rare autosomal recessive disease with significant impacts on oral health, including oral candidiasis and varying degrees of enamel hypoplasia.
Objective: To present the oral findings of a girl with APECED and the minimally invasive approach taken in recovery and rehabilitation, taking into account the complexity of her medical condition.
Material and methods: A case of a 16-year-old girl with APECED, who visited the dental clinic due to defects of the hard dental tissues and severe dentinal hyperesthesia, is described. There was an underbite with a reduced lower facial floor and enamel hypoplasia in the coronal and middle third of the anterior teeth and first molars.
Results: Through direct composite restorations and a minimally invasive approach, a good healing, functional and aesthetic result was achieved.
Keywords: APECED, enamel hypoplasia, dentin hyperaesthesia,
- Download FULL TEXT /PDF 1485 KB/
Please cite this article as: Markova K, Simeonov N. Oral findings and clinical behavior in patient having autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). J of IMAB. 2024 Oct-Dec;30(4):5806-5810. [Crossref - 10.5272/jimab.2024304.5806]
Correspondence to: Kremena Markova, Department of Operative Dentistry and Endodontics, Faculty of Dental Medicine, Medical University of Plovdiv; 3, Hristo Botev Blvd., Plovdiv, Bulgaria; E-mail: kremenadrangova@gmail.com
REFERENCES:
1. Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med. 1990 Jun 28;322(26):1829-36. [PubMed]
2. Cheng MH, Shum AK, Anderson MS. What's new in the Aire? Trends Immunol. 2007 Jul;28(7):321-7. [PubMed]
3. Kont V, Laan M, Kisand K, Merits A, Scott HS, Peterson P. Modulation of Aire regulates the expression of tissue-restricted antigens. Mol Immunol. 2008 Jan;45(1):25-33. [PubMed]
4. Cleary T. Chronic mucocutaneous candidiasis. In: Candidiasis, Pathogenesis, Diagnosis and Treatment. Bodey GP, Ed New York Raven Press. 1993;241–52.
5. Perheentupa J. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. J Clin Endocrinol Metab. 2006 Aug;91(8):2843-50. [PubMed]
6. Capalbo D, De Martino L, Giardino G, Di Mase R, Di Donato I, Parenti G, et al. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: Insights into genotype-phenotype correlation. Int J Endocrinol. 2012;2012:353250. [PubMed]
7. Husebye ES, Allolio B, Arlt W, Badenhoop K, Bensing S, Betterle C, et al. Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency. J Intern Med. 2014 Feb;275(2):104-15. [PubMed]
8. Burton C, Cottrell E, Edwards J. Addison’s disease: Identification and management in primary care. Br J Gen Pract. 2015 Sep;65(638):488–90. [PubMed]
9. Perniola R, Tamborrino G, Marsigliante S, De Rinaldis C. Assessment of enamel hypoplasia in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). J Oral Pathol Med. 1998 Jul;27(6):278–82. [PubMed]
10. Graham A, Javidi H, Stern M, Rogers H. The Impacts of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dysplasia (APECED) on the Oral Health of Children and Young People: A Review and Case Report. J Adv Oral Res. 2022;13(1):29–37. [Crossref]
11. Brad GF, Nicoară DM, Scutca AC, Bugi MA, Asproniu R, Olariu LG, et al. Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1—A Case Study and Literature Review. J Clin Med. 2024 Apr 18;13(8):2368. [PubMed]
12. Myllärniemi S, Perheentupa J. Oral findings in the autoimmune polyendocrinopathy-candidosis syndrome (APECS) and other forms of hypoparathyroidism. Oral Surgery, Oral Med Oral Pathol. 1978 May;45(5):721–9. [PubMed]
13. Ferré EMN, Schmitt MM, Lionakis MS. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. Front Pediatr. 2021 Nov 1;9:723532. [PubMed]
14. Eriksson D, Røyrvik EC, Aranda-Guillén M, Berger AH, Landegren N, Artaza H, et al. GWAS for autoimmune Addison’s disease identifies multiple risk loci and highlights AIRE in disease susceptibility. Nat Commun. 2021 Feb 11;12(1):959. [PubMed]
15. McGovern E, Fleming P, Costigan C, Dominguez M, Coleman D, Nunn J. Oral health in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). Eur Arch Paediatr Dent. 2008 Dec;9(4):236-44. [PubMed]
16. Perheentupa J. APS-I/APECED: The clinical disease and therapy. Endocrinol Metab Clin North Am. 2002 Jun;31(2):295–320. [PubMed]
17. Brenchley L, Ferré EMN, Schmitt MM, Gardner PJ, Lionakis MS, Moutsopoulos NM. Case Report: Dental Findings Can Aid in Early Diagnosis of APECED Syndrome. Front Dent Med. 2021; 2:2670624. [PubMed]
18. Welbury R, Walls A. Case reports – Candida endocrinopathy syndrome and the pattern of enamel hypoplasia. J Paediatr Dent. 1986;83–7.
19. Bello MO, Garla VV. Polyglandular Autoimmune Syndrome Type I. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan. 2023 Mar 20, p1-8 [ PubMed ]
20. Pavlič A, Waltimo-Sirén J. Clinical and microstructural aberrations of enamel of deciduous and permanent teeth in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Arch Oral Biol. 2009 Jul;54(7):658–65. [PubMed]
Received: 30 April 2024
Published online: 11 October 2024