title: [Allgrove syndrome].
abstract: BACKGROUND
  Allgrove syndrome or "Triple A syndrome" involves adrenal insufficiency as a result of resistance to adrenocorticotropic hormone (ACTH), achalasia and alacrima, often associated with neurological signs. Herein, we report a new case of this rare genetic disease, which is of interest because of its dermatological mode of discovery.
  
  
  METHODS
  A 4-year-old child, born to parents related by first-degree consanguinity, presented oral hyperpigmentation and diffused acquired melanoderma, as well as long-standing dry-eye syndrome. Laboratory tests confirmed low adrenal insufficiency. The combination of alacrima and adrenal insufficiency prompted screening for Allgrove syndrome, which was confirmed by genetic analysis showing homozygous c.1331+1G>A mutation within intron 14 of the gene encoding for ALADIN protein. Both parents were heterozygous for the same mutation. Two years later, the onset of vomiting raised concerns about achalasia, which was confirmed by oesophageal manometry. The child received symptomatic treatment consisting of supplementary hydrocortisone and oesophageal dilatation.
  
  
  CONCLUSIONS
  The present case serves as a reminder that Allgrove syndrome may be diagnosed by dermatologists. Therapy is cross-disciplinary, being based upon medical treatment for adrenal insufficiency with prescription of artificial tears in the event of alacrima. Achalasia is treated by oesophageal dilatation or by surgery.
authors.affiliation: Dermatologie pédiatrique, service de pédiatrie-pneumologie, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron cedex, France. Electronic address: dr_alakeel@hotmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Alakeel
authors.affiliation: Service d'endocrinologie, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron cedex, France.
authors.forename: C
authors.initials: C
authors.lastname: Raynaud
authors.affiliation: Service de génétique médicale, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron cedex, France.
authors.forename: M
authors.initials: M
authors.lastname: Rossi
authors.affiliation: Service de pédiatrie-pneumologie, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron cedex, France.
authors.forename: P
authors.initials: P
authors.lastname: Reix
authors.affiliation: Service de dermatologie, hôpital Édouard-Herriot, pavillon R, 5, place d'Arsonval, 69003 Lyon, France.
authors.forename: D
authors.initials: D
authors.lastname: Jullien
authors.affiliation: Dermatologie pédiatrique, service de pédiatrie-pneumologie, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron cedex, France.
authors.forename: A-L
authors.initials: AL
authors.lastname: Souillet
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D004931:Esophageal Achalasia / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D010641:Phenotype
keywords: Achalasia; Achalasie; Addison (maladie d’); Adrenal insufficiency; Alacrima; Alacrymie; Allgrove; Insuffisance surrénalienne; Triple A