Department of Dermatology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
Pediatr Dermatol. 2024 Mar-Apr;41(2):292-295. doi: 10.1111/pde.15435. Epub 2023 Oct 6.
High-flow vascular malformations have been associated with multiple syndromes including capillary malformation-arteriovenous malformation (CM-AVM) syndrome, hereditary hemorrhagic telangiectasia syndrome, and less commonly, phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We present a series of three patients with clinically challenging complex AVMs who were found to have underlying PHTS. In all patients, diagnosis was delayed, and the presence of the AVM prompted sampling and genetic testing for PHTS in the absence of other clinical features of the condition. This series highlights the importance of screening for PHTS in the setting of high-flow vascular malformations.
高流量血管畸形与多种综合征相关，包括毛细血管畸形-动静脉畸形（CM-AVM）综合征、遗传性出血性毛细血管扩张症综合征，以及较少见的磷酸酶和张力蛋白同源物错构瘤综合征（PHTS）。我们报告了一系列 3 例具有临床挑战性的复杂 AVM 患者，这些患者被发现存在潜在的 PHTS。在所有患者中，诊断均被延迟，由于 AVM 的存在，在没有该疾病其他临床特征的情况下，对 PHTS 进行了取样和基因检测。本系列强调了在高流量血管畸形的情况下筛查 PHTS 的重要性。
