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An 11-year-old boy with dark skin, swallowing difficulty and absence of tears.

作者信息

Mallick Debkrishna, Thapa Rajoo

机构信息

Department of Pediatrics, The Institute of Child Health, Kolkata, West Bengal, India.

出版信息

Indian J Dermatol. 2009;54(1):95-7. doi: 10.4103/0019-5154.49007.

DOI:10.4103/0019-5154.49007
PMID:20049288
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2800890/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb48/2800890/a9a5348d6408/IJD-54-95-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb48/2800890/484a5170bce4/IJD-54-95-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb48/2800890/4ae44bb4aa62/IJD-54-95-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb48/2800890/68647a10b81f/IJD-54-95-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb48/2800890/a9a5348d6408/IJD-54-95-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb48/2800890/484a5170bce4/IJD-54-95-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb48/2800890/4ae44bb4aa62/IJD-54-95-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb48/2800890/68647a10b81f/IJD-54-95-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb48/2800890/a9a5348d6408/IJD-54-95-g004.jpg

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引用本文的文献

1
Ashy dermatosis: a controversial entity.灰白色皮肤病：一个存在争议的病症。
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本文引用的文献

1
Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease.奥尔格罗夫或4“A”综合征：一种导致多系统神经疾病的常染色体隐性综合征。
J Neurol Neurosurg Psychiatry. 2003 May;74(5):654-7. doi: 10.1136/jnnp.74.5.654.
2
Adrenocorticotropin insensitivity syndromes.促肾上腺皮质激素不敏感综合征
Endocr Rev. 1998 Dec;19(6):828-43. doi: 10.1210/edrv.19.6.0351.
3
Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster.三 A 综合征基因与 12q13 染色体上 II 型角蛋白基因簇附近的连锁关系。
Hum Mol Genet. 1996 Dec;5(12):2061-6. doi: 10.1093/hmg/5.12.2061.
4
Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome.肾上腺功能不全/无泪/贲门失弛缓症（3A）综合征中的神经和肾上腺功能障碍。
Arch Dis Child. 1993 Jun;68(6):779-82. doi: 10.1136/adc.68.6.779.
5
The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities.“4A”综合征：与贲门失弛缓症、无泪症、自主神经及其他神经异常相关的肾上腺皮质功能不全。
Eur J Pediatr. 1995 Jan;154(1):18-23. doi: 10.1007/BF01972967.
6
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.肾上腺脑白质营养不良：血浆中饱和极长链脂肪酸含量增加。
Neurology. 1981 Oct;31(10):1241-9. doi: 10.1212/wnl.31.10.1241.
7
Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima.奥尔格罗夫综合征：一种常染色体隐性遗传综合征，特征为促肾上腺皮质激素不敏感、贲门失弛缓症和无泪症。
Clin Endocrinol (Oxf). 1991 Feb;34(2):107-14. doi: 10.1111/j.1365-2265.1991.tb00279.x.
8
Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis.家族性糖皮质激素缺乏症。诊断与发病机制研究。
Arch Dis Child. 1975 Apr;50(4):291-7. doi: 10.1136/adc.50.4.291.
9
Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production.伴有贲门失弛缓症和泪液分泌不足的家族性糖皮质激素缺乏症。
Lancet. 1978 Jun 17;1(8077):1284-6. doi: 10.1016/s0140-6736(78)91268-0.