Allgrove syndrome: a report of a unique case characterised by peculiar dental findings resembling those of ectodermal dysplasia

Authors:

ABSTRACT

Aim

Triple A or Allgrove Syndrome (OMIM231550) is a rare, autosomal recessive genetic disorder in which patients
typically suffer from chronic adrenal insufficiency due to resistance to ACTH (Addison's disease), esophageal achalasia, and defective
tear formation (alacrima). The syndrome is caused by mutations in the AAAS gene on chromosome 12q13 encoding a 546 aminoacid
protein named alacrimia-achalasia-adrenal insufficiency neurologic disorder (ALADIN), a constituent of eukaryotic nuclear pore
complexes. CASE REPORT: We describe a case of Allgrove Syndrome presenting with anhidrosis and peculiar dental features
resembling those of Ectodermal Dysplasia (ED).

Conclusion

Given the clinical findings in this case we suggest the hypothesis that
the pathogenetic mechanism in Allgrove syndrome is related to the ED.

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