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.
  
  
  METHODS
  We describe a case of Allgrove Syndrome presenting with anhidrosis and peculiar dental features resembling those of Ectodermal Dysplasia (ED).
  
  
  CONCLUSIONS
  Given the clinical findings in this case we suggest the hypothesis that the pathogenetic mechanism in Allgrove syndrome is related to the ED.
authors.affiliation: Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano, Department of Pathophysiology and Transplantation, University of Milan, Italy. Pediatric Dermatology Unit - Pediatric Clinic 1.
authors.forename: G
authors.initials: G
authors.lastname: Tadini
authors.affiliation: Section of Dermatology, Department of Clinical and Experimental Medicine, Parma University, Parma, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Besagni
authors.affiliation: Institute for Maternal and Child Health, IRCCS " Burlo Garofolo", Trieste, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Callea
authors.affiliation: Pediatric Dermatology Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano, Department of Pathophysiology and Transplantation, University of Milan, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Brena
authors.affiliation: Pediatric Dermatology Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano, Department of Pathophysiology and Transplantation, University of Milan, Italy.
authors.forename: L C
authors.initials: LC
authors.lastname: Rossi
authors.affiliation: Department of Oral Pathology, DISC, University of Genoa, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Angiero
authors.affiliation: Italian Stomatological Institute (ISI), Department Oral Pathology and Laser Therapy, Milan, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Crippa
mesh_terms: D000309:Adrenal Insufficiency / Q000175:diagnosis* / Q000473:pathology; D002648:Child; D004476:Ectodermal Dysplasia / Q000473:pathology; D004931:Esophageal Achalasia / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D011862:Radiography, Panoramic; D014071:Tooth Abnormalities / Q000473:pathology*