Article citationsMore>>
Chinello, M., Mauro, M., Cantalupo, G., Balter, R., De Bortoli, M., Vitale, V., Zaccaron, A., Bonetti, E., Gaudino, R., Fiorini, E. and Cesaro, S. (2019) Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters with the Same AIRE Mutation but Different Phenotypes. Frontiers in Pediatrics, 7, 51.
https://doi.org/10.3389/fped.2019.00051
has been cited by the following article:
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TITLE:
Unusual Presentation of Precocious Puberty and Alopecia Universalis in Saudi Patients with Autoimmune Polyglandular Syndrome Type 1(APS1) without Any Other Manifestation of the Disease: Case Report and a Brief Review of the Literature
AUTHORS:
Aida Al Jabri, Aminah Al Essa, Sakinah Al Shaib
KEYWORDS:
APS-1, Alopecia Universalis, Precocious Puberty
JOURNAL NAME:
Case Reports in Clinical Medicine,
Vol.9 No.7,
July
17,
2020
ABSTRACT: Autoimmune polyglandular syndrome type 1 (APS-1) is one of the rare inherited disorder that affects both sexes alike. Although in specific autoimmune dysfunction associated with this syndrome found to be more common in females than males. It has specific criteria usually presented at a specific age. The object of this clinical case report is to highlight this unusual presentation of such condition which is the presence of APS-1 with precocious puberty and alopecia Universalis without any associated symptoms of APS-1 and the gene variations that never had been found before. And up to our knowledge, this is the 1st case in our population and worldwide that has such combination and this is unusual clinical presentation.
Autoimmune polyglandular syndrome type 1 (APS-1) is one of the rare inherited disorder that affects both sexes alike. Although in specific autoimmune dysfunction associated with this syndrome found to be more common in females than males. It has specific criteria usually presented at a specific age. The object of this clinical case report is to highlight this unusual presentation of such condition which is the presence of APS-1 with precocious puberty and alopecia Universalis without any associated symptoms of APS-1 and the gene variations that never had been found before. And up to our knowledge, this is the 1st case in our population and worldwide that has such combination and this is unusual clinical presentation.