Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Center for Regenerative Therapies, Berlin, Germany.
JCI Insight. 2023 Oct 23;8(20):e172179. doi: 10.1172/jci.insight.172179.
Superficial erythematous cutaneous vascular malformations are assumed to be blood vascular in origin, but cutaneous lymphatic malformations can contain blood and appear red. Management may be different and so an accurate diagnosis is important. Cutaneous malformations were investigated through 2D histology and 3D whole-mount histology. Two lesions were clinically considered as port-wine birthmarks and another 3 lesions as erythematous telangiectasias. The aims were (i) to demonstrate that cutaneous erythematous malformations including telangiectasia can represent a lymphatic phenotype, (ii) to determine if lesions represent expanded but otherwise normal or malformed lymphatics, and (iii) to determine if the presence of erythrocytes explained the red color. Microscopy revealed all lesions as lymphatic structures. Port-wine birthmarks proved to be cystic lesions, with nonuniform lymphatic marker expression and a disconnected lymphatic network suggesting a lymphatic malformation. Erythematous telangiectasias represented expanded but nonmalformed lymphatics. Blood within lymphatics appeared to explain the color. Blood-lymphatic shunts could be detected in the erythematous telangiectasia. In conclusion, erythematous cutaneous capillary lesions may be lymphatic in origin but clinically indistinguishable from blood vascular malformations. Biopsy is advised for correct phenotyping and management. Erythrocytes are the likely explanation for color accessing lymphatics through lympho-venous shunts.
表浅红斑性皮肤血管畸形被认为起源于血管,但皮肤淋巴管畸形可含血液而呈现红色。治疗方法可能不同,因此准确的诊断很重要。通过二维组织学和三维全组织学研究皮肤畸形。临床上将两个病变视为葡萄酒色斑,另外三个病变视为红斑性毛细血管扩张症。目的是:(i)证明包括毛细血管扩张症在内的皮肤红斑性畸形可能代表淋巴管表型;(ii)确定病变是否代表扩张但正常或畸形的淋巴管;以及(iii)确定红细胞的存在是否解释了颜色。显微镜显示所有病变均为淋巴管结构。葡萄酒色斑被证明是囊性病变,淋巴管标志物表达不均匀,淋巴管网络中断,提示淋巴管畸形。红斑性毛细血管扩张症代表扩张但非畸形的淋巴管。淋巴管内的血液似乎解释了颜色。在红斑性毛细血管扩张症中可以检测到血液-淋巴管分流。总之,红斑性皮肤毛细血管病变可能起源于淋巴管,但在临床上与血管畸形难以区分。建议进行活检以进行正确的表型分析和管理。通过淋巴-静脉分流进入淋巴管的红细胞可能是颜色的原因。