Gu Hao, Yue Xiaojie, Zhao Xiong, Shu Qiang
Department of Burn and Plastic Surgery, Multidisciplinary Team of Vascular Anomalies, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, PR China.
Department of Cardiac Surgery, The Children's Hospital, School of Medicine, Zhejiang University, National Clinical Research Center for Child Health, Hangzhou, PR China.
Hereditas. 2025 Jun 23;162(1):112. doi: 10.1186/s41065-025-00484-7.
Early-stage arteriovenous malformations (AVMs) and port-wine stains (PWS) exhibit overlapping clinical presentations, notably as flat, irregular erythema, posing significant diagnostic challenges. Conventional imaging techniques offer insufficient resolution for microvascular assessment during initial evaluation, and definitive diagnosis requires invasive tissue biopsy. We report a case of a 4-year-old boy initially misdiagnosed with facial PWS following ineffective photodynamic therapy. Digital images with quantitive readings acquired by infrared thermography (IRT) camera detected localized hyperthermia within the lesion, indicative of underlying hemodynamic anomalies. Skin biopsy of the lesion was performed and a somatic KARS mutation (p. Gln61His) was detected via targeted sequencing. Subsequent digital subtraction angiography confirmed the presence of micro-arteriovenous fistulas, thereby confirming the diagnosis of early AVM. This case illustrates the clinical utility of IRT in detecting subtle temperature variations associated with vascular pathophysiology. Integrating IRT into initial diagnostic algorithms may enhance the accuracy of differential diagnosis for vascular malformations, particularly early-stage AVMs.
早期动静脉畸形（AVM）和葡萄酒色斑（PWS）表现出重叠的临床表现，尤其是表现为扁平、不规则红斑，这带来了重大的诊断挑战。在初始评估期间，传统成像技术对微血管评估的分辨率不足，明确诊断需要进行侵入性组织活检。我们报告一例4岁男孩，在光动力治疗无效后最初被误诊为面部PWS。通过红外热成像（IRT）相机获取的带有定量读数的数字图像检测到病变内局部体温过高，提示潜在的血流动力学异常。对病变进行了皮肤活检，并通过靶向测序检测到体细胞KARS突变（p.Gln61His）。随后的数字减影血管造影证实存在微动静脉瘘，从而确诊为早期AVM。该病例说明了IRT在检测与血管病理生理学相关的细微温度变化方面的临床实用性。将IRT纳入初始诊断算法可能会提高血管畸形，尤其是早期AVM鉴别诊断的准确性。
