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

Type:  Articles

Pubblication date:  12/2015

Authors:  G. Tadini*,**, F. Besagni***, M. Callea****, M. Brena*, L.C. Rossi*, F. Angiero*****, R. Crippa******

Language:  English

Institution:  Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano, Department of Pathophysiology and Transplantation, University of Milan, Italy *Pediatric Dermatology Unit **Pediatric Clinic 1 ***Section of Dermatology, Department of Clinical and Experimental Medicine, Parma University, Parma, Italy. ****Institute for Maternal and Child Health, IRCCS “ Burlo Garofolo”, Trieste, Italy *****Department of Oral Pathology, DISC, University of Genoa, Italy ******Italian Stomatological Institute (ISI), Department Oral Pathology and Laser Therapy, Milan, Italy

Publication:  European Journal of Paediatic Dentistry

Publisher:  Ariesdue Srl

Keywords:  Allgrove Syndrome; AAAS gene; Conical shaped teeth; Ectodermal Dysplasia; Enamel hypoplasia; Hypodontia.

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Email:  gtadinicmce@unimi.it


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

Abstract:  Background Triple A or Allgrove Syndrome (OMIM#231550) 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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