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Clinical overlap of PHACE and LUMBAR syndromes
Pediatric Dermatology ( IF 1.2 ) Pub Date : 2022-07-27 , DOI: 10.1111/pde.15031
Rachael Davenport 1 , John C Su 1, 2, 3, 4 , Janice Nathalie 1, 5 , Christopher M Richmond 6 , Tiong Yang Tan 3, 6 , Susan J Robertson 1, 2
Affiliation  

Segmental infantile hemangiomas affecting the upper body are associated with PHACE(S) (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac anomalies, Eye anomalies, and Sternal defects) syndrome, whereas segmental infantile hemangiomas affecting the lower body are the cutaneous hallmark of LUMBAR (Lower body hemangioma and other skin defects, Urogenital anomalies and Ulceration, Myelopathy, Bony deformities, Anorectal malformations and Arterial anomalies, and Renal anomalies) syndrome. We present two individuals with concurrent features of both PHACE and LUMBAR syndromes demonstrating an overlap phenotype. The overlapping features seen in our patients suggest that these syndromes occur on the same phenotypic spectrum and derive from a common embryonic pathophysiology.

中文翻译:

PHACE 和 LUMBAR 综合征的临床重叠

影响上半身的节段性婴儿血管瘤与 PHACE(S)(颅窝异常、H血管瘤、动脉异常、心脏异常、E ye 异常和S ternal缺陷)综合征有关,而影响下半身的节段性婴儿血管瘤是 LUMBAR 的皮肤标志(下肢血管瘤和其他皮肤缺损、U生殖器异常和溃疡、脊髓病、Bony 畸形、A直肠畸形动脉异常,以及Renal 异常)综合征。我们提出了两个同时具有 PHACE 和 LUMBAR 综合征特征的个体,显示出重叠表型。在我们的患者中看到的重叠特征表明这些综合征发生在相同的表型谱上,并且源自共同的胚胎病理生理学。
更新日期:2022-07-27
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