目的:婴儿血管瘤(IH)的发病机制,PHACE,和LUMBAR综合征仍然未知。我们旨在描述与IH相关的中线异常的组织病理学特征,包括PHACE和LUMBAR综合征患者。
方法:进行了多中心回顾性分析,以确定IH患者,PHACE,和LUMBAR综合征,伴有胸骨或中线异常的组织病理学标本。共纳入13例患者的18个中线病变。在18个中线病变中,有14个进行了组织病理学和临床检查。仅对三个错构瘤样下巴斑块和一个脐上缝进行了临床检查。
结果:所有13例患者均有中线病变和IH。组织病理学诊断如下:横纹肌间质错构瘤(3),毛囊皮脂腺囊性错构瘤(1),纤维上皮息肉(1),疣状表皮增生伴血管增生和纤维增生(1),先天性中线宫颈裂(1),心包纤维化(1),胶原蛋白增加的纤维成分(1),萎缩性皮肤/膜(3),带有神经成分的血管脂肪瘤肿块(1),和脂肪瘤肿块(1)。由于本研究的回顾性性质,无法获得先前活检或切除的所有中线病变的病理切片.我们在临床和组织病理学上显示了PHACE综合征和横纹肌间质错构瘤(RMH)之间的新关联,除了证明PHACE综合征和下巴错构瘤之间的关联。我们还显示了从LUMBAR患者切除的中线病变中的组织病理学发现。
结论:横纹肌间质错构瘤被认为与发育过程中间质细胞的畸变有关;这可能为IH的发病机制及相关证候提供了线索。
OBJECTIVE: The pathogenesis of infantile hemangiomas (IH), PHACE, and LUMBAR syndromes remains unknown. We aim to describe histopathologic features of midline anomalies associated with IH, including patients with PHACE and LUMBAR syndromes.
METHODS: A multicenter retrospective chart review was performed to identify patients with IH, PHACE, and LUMBAR syndrome with histopathologic specimens from sternal or midline anomalies. A total of 18 midline lesions from 13 patients were included. Out of 18, 14 midline lesions underwent both histopathologic and clinical review. Three hamartoma-like chin plaques and one supraumbilical raphe underwent only clinical review.
RESULTS: All 13 patients had midline lesions and IH. Histopathologic diagnoses were as follows: rhabdomyomatous mesenchymal hamartoma (3), folliculosebaceous cystic hamartoma (1), fibroepithelial polyp (1), verrucous epidermal hyperplasia with vascular proliferation and fibroplasia (1), congenital midline cervical cleft (1), pericardium with fibrosis (1), fibrous components with increased collagen (1), atrophic skin/membrane (3), angiolipomatous mass with neural components (1), and lipomatous mass (1). Due to the retrospective nature of this study, it was not possible to obtain pathology slides for all midline lesions that had previously been biopsied or resected. We show clinically and histopathologically a new association between PHACE syndrome and rhabdomyomatous mesenchymal hamartoma (RMH), in addition to demonstrating the association between PHACE syndrome and chin hamartomas. We also display histopathologic findings seen in midline lesions resected from LUMBAR patients.
CONCLUSIONS: Rhabdomyomatous mesenchymal hamartoma is thought to be related to aberrations of mesenchymal cells during development; therefore, this may provide clues to the pathogenesis of IH and related syndromes.