In:
International Journal of Advanced Research, International Journal Of Advanced Research, Vol. 11, No. 03 ( 2023-03-31), p. 693-697
Kurzfassung:
Introduction: APECED (Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy) is an autosomal recessive disease characterized by the association of autoimmune endocrine involvement, mucocutaneous candidiasis and ectodermal tissue involvement. Observation: We report the case of 2 brothers from a 2nd degree consanguineous marriage with a history of 2 deaths in the siblings for whom the diagnosis of APECED syndrome was retained on clinical and biological criteria (genetic study in progress).The eldest had candidous onychomycosis of the hands and feet, generalized mucocutaneous candidiasis, profound hypocalcemia with tetany crisis, autoimmune hepatitis, Biermers anemia and ADDISONs disease. Meanwhile the youngest had onychomycosis, vitiligo, atrophy of the tongue, alopecia and adrenalinsufficiency. Discussion:Autoimmune polyglandular syndrome type 1 (APS-1) is classically characterized by at least two of the three components of Whitakers triad: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and chronic adrenal insufficiency. If a sibling is affected, only one component of the triad is necessary to make the diagnosis. Conclusion: This syndrome requires a multidisciplinary approach, without forgetting the importance of genetic counseling for this autosomal recessive disease.
Materialart:
Online-Ressource
ISSN:
2320-5407
DOI:
10.21474/IJAR01/16483
Sprache:
Unbekannt
Verlag:
International Journal Of Advanced Research
Publikationsdatum:
2023
ZDB Id:
2733321-8
