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结节性硬化症中的节段性胶原瘤——跳出皮肤思考:一例罕见病例报告

Segmental Collagenoma in Tuberous Sclerosis - Think Beyond the Skin: A Rare Case Report.

作者信息

Nagarajan Ashok Kumar, Manoharan Krishnaswamy, Moozhiyil Shreya

机构信息

Department of DVL, Sree Balaji Medical College and Hospital, Chromepet, Chennai, Tamil Nadu, India.

出版信息

Indian J Dermatol. 2023 Jan-Feb;68(1):123. doi: 10.4103/ijd.ijd_1038_20.

DOI:10.4103/ijd.ijd_1038_20
PMID:37151256
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10162764/
Abstract

Collagenomas are connective tissue nevi characterized by an imbalance in the distribution and amount of collagen in the extracellular matrix. Shagreen patch, a collagenoma of tuberous sclerosis, is a classical finding in this genodermatosis (Tuberous Sclerosis). Though the prototypical lesion is a shagreen patch, some individuals manifest only small collagenomas, and these can hinder a diagnosis of tuberous sclerosis and thus mask underlying systemic involvement as was seen in this case we have reported, wherein a 22-year-old male presented with segmental collagenomas over the face and calcified subependymal nodules of the brain on further investigation.

摘要

胶原瘤是一种结缔组织痣,其特征是细胞外基质中胶原蛋白的分布和数量失衡。鲨鱼皮斑,即结节性硬化症的一种胶原瘤,是这种遗传性皮肤病(结节性硬化症)的典型表现。尽管典型病变是鲨鱼皮斑,但有些个体仅表现为小的胶原瘤,这些小胶原瘤可能会妨碍结节性硬化症的诊断,从而掩盖潜在的全身受累情况,就像我们报道的这个病例一样,一名22岁男性面部出现节段性胶原瘤,进一步检查发现脑部有钙化的室管膜下结节。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cd0/10162764/2b0275898310/IJD-68-123a-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cd0/10162764/ba83469e469d/IJD-68-123a-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cd0/10162764/2419765d32d6/IJD-68-123a-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cd0/10162764/8f286c1eb6db/IJD-68-123a-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cd0/10162764/2b0275898310/IJD-68-123a-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cd0/10162764/ba83469e469d/IJD-68-123a-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cd0/10162764/2419765d32d6/IJD-68-123a-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cd0/10162764/8f286c1eb6db/IJD-68-123a-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cd0/10162764/2b0275898310/IJD-68-123a-g004.jpg

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本文引用的文献

1
Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama.结节性硬化症复杂型皮肤病变的组织学模式:全景概述。
Dermatopathology (Basel). 2021 Jul 4;8(3):236-252. doi: 10.3390/dermatopathology8030029.
2
Giant Shagreen Patch in Tuberous Sclerosis Complex.结节性硬化症中的巨大鲨革斑
Indian Dermatol Online J. 2018 Sep-Oct;9(5):353-355. doi: 10.4103/idoj.IDOJ_272_17.
3
Satisfactory treatment of a large connective tissue nevus with intralesional steroid injection.通过病灶内注射类固醇对大型结缔组织痣进行满意治疗。
Dermatol Pract Concept. 2018 Jan 31;8(1):12-14. doi: 10.5826/dpc.0801a03. eCollection 2018 Jan.
4
Clinical Characteristics of Connective Tissue Nevi in Tuberous Sclerosis Complex With Special Emphasis on Shagreen Patches.结节性硬化症中结缔组织痣的临床特征,特别强调鲨革斑。
JAMA Dermatol. 2017 Jul 1;153(7):660-665. doi: 10.1001/jamadermatol.2017.0298.
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Forehead plaque: a cutaneous marker of CNS involvement in tuberous sclerosis.
Indian J Dermatol Venereol Leprol. 2008 Jan-Feb;74(1):28-31. doi: 10.4103/0378-6323.38403.
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A case of eruptive collagenoma.一例发疹性胶原瘤。
Pediatr Dermatol. 2002 Nov-Dec;19(6):565-7. doi: 10.1046/j.1525-1470.2002.00236_2.x.