Brix Anna Trier Heiberg, Tørring Pernille Mathiesen, Kjeldsen Anette Drøhse, Bygum Anette, Schuster Annette, Nielsen Troels Halfeld
Klinisk Institut, Syddansk Universitet.
Klinisk Genetisk Afdeling, Odense Universitetshospital.
Ugeskr Laeger. 2022 May 9;184(19).
Capillary malformations - arteriovenous malformation, hereditary hemorrhagic telangiectasia and Sturge-Weber syndrome - are rare diseases in which cutaneous capillary malformations (CM) may be associated with cerebral vascular malformations. The clinical presentation of each disease is described with focus on how to distinguish them in the clinic and differential diagnoses are listed. This review finds that upon thorough and careful examination of patients, cutaneous CM might be a diagnostic hallmark for underlying disease and therefore a significant clinical observation.
毛细血管畸形——动静脉畸形、遗传性出血性毛细血管扩张症和斯-韦综合征——是罕见疾病，其中皮肤毛细血管畸形（CM）可能与脑血管畸形相关。描述了每种疾病的临床表现，重点在于如何在临床上对它们进行鉴别，并列出了鉴别诊断。本综述发现，经过对患者全面细致的检查，皮肤CM可能是潜在疾病的诊断标志，因此是一项重要的临床观察指标。
