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里德综合征:1型节段性毛发平滑肌瘤与子宫肌瘤。

Reed's syndrome: segmental piloleimyomas type 1 and uterus myomatosus.

作者信息

Wollina Uwe, Schönlebe Jacqueline

机构信息

Department of Dermatology and Allergology, Academic Teaching Hospital Dresden-Friedrichstadt, 01067 Dresden, Germany;

Institute of Pathology "Georg Schmorl", Academic Teaching Hospital Dresden-Friedrichstadt, 01067 Dresden, Germany.

出版信息

J Dermatol Case Rep. 2014 Sep 30;8(3):67-9. doi: 10.3315/jdcr.2014.1178.

DOI:10.3315/jdcr.2014.1178
PMID:25324907
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4195502/
Abstract

BACKGROUND

Cutaneous mosaicism is a possible cause of segmental skin diseases. Cutaneous leiomyomatosis represent a spectrum of conditions ranging from single lesions to disseminated wide distribution. Reed's syndrome, is an autosomal dominant disorder characterized by multiple cutaneous and uterine leiomyomas.

MAIN OBSERVATION

We observed a segmental cutaneous piloleimyomatosis type 1 in a 55-year old female who had an uterus extirpation because of uterine leiomyomas. The cutaneous lesions were moderately painful and localized on her left upper trunk. They presented as firm nodules and small plaques in a linear arrangement. Renal cancer was excluded.

CONCLUSION

In patients with multiple cutaneous (pilo)leiomyomas a search for underlying systemic diseases is necessary in order to not miss benign or malignant tumors of internal organs.

摘要

背景

皮肤镶嵌现象是节段性皮肤病的一个可能病因。皮肤平滑肌瘤病涵盖了从单个病损到广泛播散的一系列情况。里德综合征是一种常染色体显性疾病,其特征为多发皮肤和平滑肌瘤。

主要观察结果

我们在一名55岁因子宫肌瘤而切除子宫的女性中观察到1型节段性皮肤毛发平滑肌瘤病。皮肤损害有中度疼痛,位于左上躯干。损害表现为坚实的结节和呈线状排列的小斑块。已排除肾癌。

结论

对于有多发性皮肤(毛发)平滑肌瘤的患者,有必要寻找潜在的全身性疾病,以免漏诊内脏的良性或恶性肿瘤。

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引用本文的文献

1
Multiple Cutaneous Leiomyomas with Uterus Myomatosus (MCUL) - Two Case Reports and One New Mutation of FH Gene.多发性皮肤平滑肌瘤伴子宫肌瘤(MCUL)——两例报告及FH基因一处新突变
Open Access Maced J Med Sci. 2019 Jul 30;7(18):3026-3029. doi: 10.3889/oamjms.2019.625. eCollection 2019 Sep 30.

本文引用的文献

1
Multiple linear leiomyomas of the forehead as the presenting sign of Reed syndrome.
Int J Dermatol. 2014 Mar;53(3):316-8. doi: 10.1111/ijd.12240. Epub 2013 Sep 30.
2
Familial leiomyomatosis cutis affecting nine family members in two successive generations including four cases of Reed's syndrome.两代共 9 名家族成员受累的家族性皮肤平滑肌瘤病,包括 Reed 综合征 4 例。
Indian J Dermatol Venereol Leprol. 2013 Jan-Feb;79(1):83-7. doi: 10.4103/0378-6323.104674.
3
Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome.遗传性平滑肌瘤病和肾癌(HLRCC)综合征中子宫平滑肌瘤的形态学和分子特征。
Am J Surg Pathol. 2013 Jan;37(1):74-80. doi: 10.1097/PAS.0b013e31825ec16f.
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Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis.单侧 2 型节段性平滑肌瘤中存在一种新的富马酸水解酶基因突变的证据。
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Cutaneous smooth muscle neoplasms: clinical features, histologic findings, and treatment options.皮肤平滑肌肿瘤:临床特征、组织学表现及治疗选择
J Am Acad Dermatol. 2002 Apr;46(4):477-90; quiz, 491-4. doi: 10.1067/mjd.2002.121358.
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Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.奥尔波特综合征。一种遗传性的肾脏、眼部和耳蜗基底膜疾病。
Medicine (Baltimore). 1999 Sep;78(5):338-60. doi: 10.1097/00005792-199909000-00005.
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Painful tumors of the skin: "LEND AN EGG".皮肤疼痛性肿瘤:“借个鸡蛋”。 (感觉这个英文表述很奇怪,不太能理解其确切含义,或许有拼写错误之类的,按照要求准确翻译了,但可能在医学语境里不太符合常规意思)
J Am Acad Dermatol. 1993 Feb;28(2 Pt 2):298-300. doi: 10.1016/0190-9622(93)70039-v.