先天性角化不良伴脑白质营养不良和中央性骨硬化症。
Trichothiodystrophy with dysmyelination and central osteosclerosis.
机构信息
Department of Neuroradiology, Duke University Medical Center, Durham, NC 27710, USA.
出版信息
AJNR Am J Neuroradiol. 2010 Jan;31(1):129-30. doi: 10.3174/ajnr.A1665.
Abstract
Trichothiodystrophy (TTD) is a rare group of autosomal recessive disorders of DNA repair unified by the presence of sulfur-deficient brittle hair. We report a 3-year-old boy with classic clinical features of TTD, including ichthyosis, alopecia, developmental delay, and tiger-tail banding of the hair shaft on polarizing microscopy. Brain MR imaging showed both diffuse dysmyelination and osteosclerosis, findings that, in combination, may be specific for TTD.
摘要
先天性硫营养不良症（TTD）是一组罕见的常染色体隐性遗传病，其特征为 DNA 修复缺陷和毛发中硫元素含量降低。我们报告了一例 3 岁男孩，具有 TTD 的典型临床特征，包括鱼鳞癣、脱发、发育迟缓以及毛发纵切偏振光显微镜下的虎尾带。脑部磁共振成像显示弥漫性脑白质发育不良和骨质硬化，这些发现结合起来可能对 TTD 具有特异性。
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本文引用的文献
1
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.
Hum Mutat. 2009 Mar;30(3):438-45. doi: 10.1002/humu.20912.
2
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25.
3
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.
DNA Repair (Amst). 2008 May 3;7(5):744-50. doi: 10.1016/j.dnarep.2008.01.014. Epub 2008 Mar 10.
4
Structural and molecular hair abnormalities in trichothiodystrophy.
J Invest Dermatol. 2006 Oct;126(10):2210-6. doi: 10.1038/sj.jid.5700384. Epub 2006 May 25.
5
Central osteosclerosis with trichothiodystrophy.
Pediatr Radiol. 2004 Jul;34(7):541-6. doi: 10.1007/s00247-004-1207-7. Epub 2004 May 18.
6
Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.
J Am Acad Dermatol. 2001 Jun;44(6):891-920; quiz 921-4. doi: 10.1067/mjd.2001.114294.
7
Tay's syndrome: MRI.
Neuroradiology. 2000 Nov;42(11):849-51. doi: 10.1007/s002340000443.
8
Chondroitin sulfate proteoglycans in the developing central nervous system. II. Immunocytochemical localization of neurocan and phosphacan.
J Comp Neurol. 1996 Feb 26;366(1):44-54. doi: 10.1002/(SICI)1096-9861(19960226)366:1<44::AID-CNE4>3.0.CO;2-K.
9
Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis.
J Am Acad Dermatol. 1993 May;28(5 Pt 2):820-6. doi: 10.1016/0190-9622(93)70109-7.
10
Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic, and histopathologic characterization with review of the literature.
J Bone Miner Res. 1989 Dec;4(6):863-75. doi: 10.1002/jbmr.5650040611.
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