Alakeel A, Raynaud C, Rossi M, Reix P, Jullien D, Souillet A-L
Dermatologie pédiatrique, service de pédiatrie-pneumologie, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron cedex, France.
Service d'endocrinologie, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron cedex, France.
Ann Dermatol Venereol. 2015 Feb;142(2):121-4. doi: 10.1016/j.annder.2014.11.012. Epub 2014 Dec 30.
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.
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.
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.
奥尔格罗夫综合征或“三A综合征”包括由于对促肾上腺皮质激素（ACTH）抵抗导致的肾上腺功能不全、贲门失弛缓症和无泪症，常伴有神经系统体征。在此，我们报告一例这种罕见遗传病的新病例，因其通过皮肤病学方式被发现而具有研究价值。
一名4岁儿童，其父母为一级近亲，出现口腔色素沉着过度和弥漫性后天性黑皮病，以及长期存在的干眼综合征。实验室检查证实存在肾上腺功能不全。无泪症和肾上腺功能不全的组合促使对奥尔格罗夫综合征进行筛查，基因分析显示编码ALADIN蛋白的基因第14内含子存在纯合c.1331 + 1G>A突变，从而确诊该病。父母双方均为该突变的杂合子。两年后，呕吐发作引发了对贲门失弛缓症的担忧，食管测压证实了这一情况。该患儿接受了包括补充氢化可的松和食管扩张在内的对症治疗。
本病例提醒皮肤科医生可能会诊断出奥尔格罗夫综合征。治疗是跨学科的，基于肾上腺功能不全的药物治疗，如有无泪症则开具人工泪液。贲门失弛缓症通过食管扩张或手术治疗。
