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视力丧失以及经基因分析确诊但未经皮肤检查和活检确诊的疑似弹性假黄瘤。

Visual loss and presumed pseudoxanthoma elasticum confirmed with genetic analysis but not with skin examination and biopsies.

作者信息

Aerts Carolien, De Keyser Christophe, Leys Anita

机构信息

Department of Dermatology, University Hospitals Leuven, Leuven, Belgium.

Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.

出版信息

GMS Ophthalmol Cases. 2011 Sep 15;1:Doc03. doi: 10.3205/oc000003. eCollection 2011.

DOI:10.3205/oc000003
PMID:27625925
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5015608/
Abstract

OBJECTIVE

Case report of a patient with angioid streaks, peau d'orange, comet tail lesions, choroidal neovascularisation and presumed pseudoxanthoma elasticum (PXE). PXE was confirmed by gene analysis but not by skin biopsies.

METHODS

Case report of a patient with angioid streaks identified at age 21 and follow-up till age 43 with repeated fluorescein angiography (FA) and optical coherence tomography (OCT). Dermatologic examination, skin biopsies and genetical analysis performed to confirm suspected diagnosis of PXE.

RESULTS

At age 43, no specific skin lesions were identified and 3 biopsies could not confirm PXE. Genetic analysis showed a homozygous mutation in the ABCC6 gene and confirmed the diagnosis of PXE.

CONCLUSIONS

This case illustrates that in patients with angioid streaks having strong ocular indicators of PXE, confirmation of PXE can be obtained not only with dermatologic examination and skin biopsies, but also with genetic analysis. PXE associated mutations can be detected occasionally in biopsy negative patients and for this reason are extremely helpful in confirming a suspected diagnosis.

摘要

目的

报告一例患有血管样条纹、橘皮样皮肤、彗星尾病变、脉络膜新生血管且疑似弹性假黄瘤（PXE）的患者。PXE通过基因分析得以确诊，但皮肤活检未能确诊。

方法

报告一名21岁时被诊断出患有血管样条纹的患者，并随访至43岁，期间多次进行荧光素血管造影（FA）和光学相干断层扫描（OCT）。进行了皮肤科检查、皮肤活检和基因分析，以确诊疑似的PXE。

结果

43岁时，未发现特定的皮肤病变，3次活检均未能确诊PXE。基因分析显示ABCC6基因存在纯合突变，从而确诊为PXE。

结论

该病例表明，对于具有强烈眼部PXE指征的血管样条纹患者，不仅可以通过皮肤科检查和皮肤活检确诊PXE，基因分析也可确诊。活检阴性的患者偶尔也能检测到与PXE相关的突变，因此对确诊疑似病例极为有用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/f783062a97c5/OC-01-03-g-010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/6350f148699c/OC-01-03-g-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/633913c14b18/OC-01-03-g-002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/bcae5bb88a87/OC-01-03-g-003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/3c610478970f/OC-01-03-g-004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/87102d84a456/OC-01-03-g-005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/84cbb9abcd47/OC-01-03-g-006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/7d1b05d44c3e/OC-01-03-g-007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/798756a40d9a/OC-01-03-g-008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/906c5c27f864/OC-01-03-g-009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/f783062a97c5/OC-01-03-g-010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/6350f148699c/OC-01-03-g-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/633913c14b18/OC-01-03-g-002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/bcae5bb88a87/OC-01-03-g-003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/3c610478970f/OC-01-03-g-004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/87102d84a456/OC-01-03-g-005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/84cbb9abcd47/OC-01-03-g-006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/7d1b05d44c3e/OC-01-03-g-007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/798756a40d9a/OC-01-03-g-008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/906c5c27f864/OC-01-03-g-009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7fb6/5015608/f783062a97c5/OC-01-03-g-010.jpg

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