Clinical overlap of PHACE and LUMBAR syndromes. Issue 5 (27th July 2022)

• Record Type: Journal Article
• Authors: Davenport, Rachael; Su, John C.; Nathalie, Janice; Richmond, Christopher M.; Yang Tan, Tiong; Robertson, Susan J.
• Is Part Of: Pediatric dermatology. Volume 39:Issue 5(2022)
• Page Start: 752
• Page End: 756
• Publication Date: 2022-07-27
• Subjects: infantile hemangioma -- LUMBAR syndrome -- PELVIS syndrome -- PHACE syndrome -- PHACES syndrome -- SACRAL syndrome; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.15031
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: Segmental infantile hemangiomas affecting the upper body are associated with PHACE(S) ( P osterior fossa anomalies, H emangioma, A rterial anomalies, C ardiac anomalies, E ye anomalies, and S ternal defects) syndrome, whereas segmental infantile hemangiomas affecting the lower body are the cutaneous hallmark of LUMBAR ( L ower body hemangioma and other skin defects, U rogenital anomalies and U lceration, M yelopathy, B ony deformities, A norectal malformations and A rterial anomalies, and R enal 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.