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条纹状骨病和局灶性真皮发育不全。

Osteopathia striata and focal dermal hypoplasia.

作者信息

Knockaert D, Dequeker J

出版信息

Skeletal Radiol. 1979;4(4):223-7. doi: 10.1007/BF00347218.

DOI:10.1007/BF00347218
PMID:531586
Abstract

A 43-year old female, presenting with pain in the left knee, attributed to a stress fracture of the tibia, was found to have osteopathia striata and numerous other congenital anomalies, not only of the skeleton, but also of other tissue systems. Of the latter the most important was the presence of focal dermal hypoplasia, a disorder of the skin. Review of the radiological and dermatological literature has shown this to be the fourteenth case in which these excessively rare entities have been associated. Such an association is considered to be more than a coincidence. A radiological diagnosis of osteopathia striata, therefore, should be followed by a careful dermatological examination for focal dermal hypoplasia. Conversely, diagnosis of this rare dermatological disease should indicate the necessity for radiological survey of the skeleton.

摘要

一名43岁女性,因左膝疼痛就诊,诊断为胫骨应力性骨折,检查发现其患有条纹状骨病及众多其他先天性异常,不仅累及骨骼,还涉及其他组织系统。其中,最重要的是存在局灶性真皮发育不全,这是一种皮肤疾病。回顾放射学和皮肤病学文献发现,这是第十四例报告这两种极其罕见疾病同时出现的病例。这种关联被认为并非偶然。因此,在放射学诊断为条纹状骨病后,应仔细进行皮肤病学检查以排查局灶性真皮发育不全。反之,诊断出这种罕见的皮肤病时,也应考虑对骨骼进行放射学检查。

相似文献

1
Osteopathia striata and focal dermal hypoplasia.条纹状骨病和局灶性真皮发育不全。
Skeletal Radiol. 1979;4(4):223-7. doi: 10.1007/BF00347218.
2
[Osteopathia striata: a characteristic roentgen finding in focal dermal hypoplasia (Goltz-Gorlin syndrome)].
Radiologe. 1982 Dec;22(12):562-5.
3
Focal dermal hypoplasia syndrome.
Am J Roentgenol Radium Ther Nucl Med. 1970 Nov;110(3):561-71. doi: 10.2214/ajr.110.3.561.
4
[Focal dermal hypoplasia with apocrine nevi and striation of bones (author's transl)].
Arch Dermatol Res (1975). 1976 Aug 27;256(2):189-95. doi: 10.1007/BF00567364.
5
[Osteopathia striata, radiological manifestation of focal dermal hypoplasia].
Ann Radiol (Paris). 1972 Mar-Apr;15(3):287-95.
6
[Goltz syndrome. Focal dermal hypoplasia with polyoysplasia].
Med Cutan Ibero Lat Am. 1975;3(2):133-8.
7
Focal dermal hypoplasia (Goltz syndrome) in a male. A case report.
S Afr Med J. 1976 Mar 27;50(14):554-5.
8
Osteopathia striata. A diagnostic osseous marker of focal dermal hypoplasia.
Trans St Johns Hosp Dermatol Soc. 1974;60(2):178-82.
9
Focal dermal hypoplasia syndrome.
S Afr Med J. 1975 Jun 28;49(27):1097-8.
10
Focal dermal hypoplasia symdrome in a male.
Clin Genet. 1975 Apr;7(4):325-7. doi: 10.1111/j.1399-0004.1975.tb00336.x.

引用本文的文献

1
Goltz syndrome: Primary diagnosis by an ophthalmologist.戈尔茨综合征:由眼科医生进行初步诊断。
Indian J Ophthalmol. 2019 Sep;67(9):1467-1468. doi: 10.4103/ijo.IJO_724_18.
2
A non-mosaic mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.
Mol Genet Metab Rep. 2017 Jun 7;12:57-61. doi: 10.1016/j.ymgmr.2017.06.002. eCollection 2017 Sep.
3
Mixed sclerosing bone dystrophy. Report of a case and review of the literature.混合性硬化性骨营养不良。一例报告及文献复习。

本文引用的文献

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4
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5
Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome.先天性局限性皮肤缺失及类似大疱性表皮松解症的相关异常。一种新综合征。
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[A familial case of osteopecilia].[骨硬化症家族病例]
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[Osteopathia striata, radiological manifestation of focal dermal hypoplasia].
Ann Radiol (Paris). 1972 Mar-Apr;15(3):287-95.