{"title":"Segmental Congenital Vascular Anomaly With Atrophy, Ulceration and Scarring With Complications in Pregnancy.","authors":"Anne R Halbert, AmyLeigh Hall, Cathryn Poulton","doi":"10.1111/ajd.14441","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":8638,"journal":{"name":"Australasian Journal of Dermatology","volume":" ","pages":""},"PeriodicalIF":2.2000,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Australasian Journal of Dermatology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/ajd.14441","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"DERMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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’.
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