奥尔格罗夫综合征：一例独特病例报告，其特征为具有类似外胚层发育不良的特殊牙齿表现。

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

作者信息

Tadini G, Besagni F, Callea M, Brena M, Rossi L C, Angiero F, Crippa R

机构信息

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.

出版信息

Eur J Paediatr Dent. 2015 Dec;16(4):324-6.

PMID:26637259

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.

摘要

背景

三 A 综合征或奥尔格罗夫综合征（OMIM#231550）是一种罕见的常染色体隐性遗传病，患者通常因对促肾上腺皮质激素抵抗（艾迪生病）而患有慢性肾上腺皮质功能不全、食管贲门失弛缓症和泪液形成缺陷（无泪症）。该综合征由位于 12q13 染色体上的 AAAS 基因突变引起，该基因编码一种名为无泪症 - 贲门失弛缓症 - 肾上腺皮质功能不全神经障碍（ALADIN）的 546 个氨基酸的蛋白质，是真核细胞核孔复合体的一个组成部分。