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IF 2.2 4区医学 Q2 DERMATOLOGY

Australasian Journal of Dermatology Pub Date : 2025-02-28 DOI:10.1111/ajd.14441

Anne R Halbert, AmyLeigh Hall, Cathryn Poulton

引用次数: 0

摘要

一名 33 岁的妇女患有左颈部节段性非肿胀性先天性血管畸形，怀孕时出现疼痛和溃疡，分娩后出现左侧霍纳综合征。受影响组织的突变分析表明，GNA11（Glu209）发生了错义突变，PIK3CA也发生了第二次突变。使用西罗莫司治疗后，溃疡愈合，霍纳综合征也得到缓解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Segmental Congenital Vascular Anomaly With Atrophy, Ulceration and Scarring With Complications in Pregnancy.

A 33-year-old woman with a segmental non-involuting congenital vascular anomaly of the left neck developed pain and ulceration in pregnancy and left-sided Horner's syndrome after delivery. Mutational analysis of affected tissue showed a missense mutation in GNA11 (Glu209) and a second mutation in PIK3CA. Sirolimus therapy resulted in healing of the ulceration and resolution of the Horner's syndrome.

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来源期刊

Australasian Journal of Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

5.00%

发文量

186

审稿时长

6-12 weeks

期刊介绍： Australasian Journal of Dermatology is the official journal of the Australasian College of Dermatologists and the New Zealand Dermatological Society, publishing peer-reviewed, original research articles, reviews and case reports dealing with all aspects of clinical practice and research in dermatology. Clinical presentations, medical and physical therapies and investigations, including dermatopathology and mycology, are covered. Short articles may be published under the headings ‘Signs, Syndromes and Diagnoses’, ‘Dermatopathology Presentation’, ‘Vignettes in Contact Dermatology’, ‘Surgery Corner’ or ‘Letters to the Editor’.