title: LUMBAR syndrome: A case manifesting as cutaneous infantile hemangiomas of the lower extremity, perineum and gluteal region, and a review of published work.
abstract: We herein report a rare case of LUMBAR syndrome. A 1-month-old female infant presented with extensive segmental hemangiomas on the left lower extremity, left perineum and gluteal region with ulceration. Bilateral labia minoras were asymmetrical. Both legs were asymmetrical with left leg atrophy, and the intergluteal cleft was deviated. A dark red pustule and a sacrococcygeal dimple could be seen in the lumbosacral region. Lipomyelomeningocele, tethered cord and sacrum dysplasia were noted by magnetic resonance imaging. The patient was found to have an absent left kidney at 32 weeks of pregnancy. Eventually, we draw the diagnosis of LUMBAR syndrome. In addition, we discuss the clinical manifestation, diagnosis, treatment and pathogenesis by a review of published work.
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Xia
authors.initials: X
authors.lastname: Yu
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, Shanghai First People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Zhouwei
authors.initials: Z
authors.lastname: Wu
authors.affiliation: Department of Radiology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Liu
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Ruhong
authors.initials: R
authors.lastname: Chen
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Gu
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Zhirong
authors.initials: Z
authors.lastname: Yao
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D001706:Biopsy; D002081:Buttocks / Q000002:abnormalities; D005260:Female; D006391:Hemangioma / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D006801:Humans; D007223:Infant; D035002:Lower Extremity; D038061:Lower Extremity Deformities, Congenital / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D008591:Meningomyelocele / Q000175:diagnosis* / Q000473:pathology; D010502:Perineum / Q000002:abnormalities; D011296:Prenatal Diagnosis; D011433:Propranolol / Q000627:therapeutic use; D035583:Rare Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D012447:Sacrum / Q000002:abnormalities; D012868:Skin Abnormalities / Q000473:pathology; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D012883:Skin Ulcer / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D000075529:Solitary Kidney / Q000175:diagnosis* / Q000473:pathology; D013577:Syndrome
chemical_list: D000319:Adrenergic beta-Antagonists; D011433:Propranolol
keywords: LUMBAR syndrome; abnormality; infantile hemangiomas; mosaic mutation; myelopathy