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Clinical overlap of PHACE and LUMBAR syndromes.
Pediatr Dermatol. 2022 Sep; 39(5):752-756.PD

Abstract

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.

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Authors+Show Affiliations

Davenport R
Department of Dermatology, The Royal Children's Hospital, Parkville, Victoria, Australia.
Su JC
Department of Dermatology, The Royal Children's Hospital, Parkville, Victoria, Australia. Murdoch Children's Research Institute, Parkville, Victoria, Australia. Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia. Department of Dermatology, Monash University, Eastern Health, Melbourne, Victoria, Australia.
Nathalie J
Department of Dermatology, The Royal Children's Hospital, Parkville, Victoria, Australia. Melbourne Medical School, University of Melbourne, Parkville, Victoria, Australia.
Richmond CM
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Yang Tan T
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia. Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Robertson SJ
Department of Dermatology, The Royal Children's Hospital, Parkville, Victoria, Australia. Murdoch Children's Research Institute, Parkville, Victoria, Australia.

MeSH

Abnormalities, MultipleAortic CoarctationEye AbnormalitiesHemangiomaHumansNeurocutaneous SyndromesSyndrome

Pub Type(s)

Case Reports

Language

eng

PubMed ID

35896169

Citation

Davenport, Rachael, et al. "Clinical Overlap of PHACE and LUMBAR Syndromes." Pediatric Dermatology, vol. 39, no. 5, 2022, pp. 752-756.
Davenport R, Su JC, Nathalie J, et al. Clinical overlap of PHACE and LUMBAR syndromes. Pediatr Dermatol. 2022;39(5):752-756.
Davenport, R., Su, J. C., Nathalie, J., Richmond, C. M., Yang Tan, T., & Robertson, S. J. (2022). Clinical overlap of PHACE and LUMBAR syndromes. Pediatric Dermatology, 39(5), 752-756. https://doi.org/10.1111/pde.15031
Davenport R, et al. Clinical Overlap of PHACE and LUMBAR Syndromes. Pediatr Dermatol. 2022;39(5):752-756. PubMed PMID: 35896169.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical overlap of PHACE and LUMBAR syndromes. AU - Davenport,Rachael, AU - Su,John C, AU - Nathalie,Janice, AU - Richmond,Christopher M, AU - Yang Tan,Tiong, AU - Robertson,Susan J, Y1 - 2022/07/27/ PY - 2021/11/27/received PY - 2022/04/26/accepted PY - 2022/7/28/pubmed PY - 2022/10/12/medline PY - 2022/7/27/entrez KW - LUMBAR syndrome KW - PELVIS syndrome KW - PHACE syndrome KW - PHACES syndrome KW - SACRAL syndrome KW - infantile hemangioma SP - 752 EP - 756 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 39 IS - 5 N2 - 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. SN - 1525-1470 UR - https://www.unboundmedicine.com/medline/citation/35896169/Clinical_overlap_of_PHACE_and_LUMBAR_syndromes_ DB - PRIME DP - Unbound Medicine ER -