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.

Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies

“…Lower body IH and other skin defects, urogenital anomalies and ulceration, myelopathy, bony deformities, anorectal malformations, and arterial and renal anomalies (LUMBAR) syndrome occur when a large segmental IH is localized in the lower part of the body in association with extracutaneous regional malformations (Figures 6E,F). This acronym is now considered more comprehensive of the malformations that can be associated with IH in the lower part of the body, replacing the terms spinal dysraphism, anogenital, cutaneous, renal and urologic anomalies, associated with an IH of lumbosacral localization (SACRAL) and perineal hemangioma, malformations of external genitalia, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus and skin tag (PELVIS) syndrome (37).…”

“…Segmental IH located in the sacral region may be associated with urogenital and anorectal malformations, while IH in the lumbar area may be associated with myelopathy. Ulceration is frequent when more than three regions are affected (37).…”

Infantile Hemangioma: A Current Review

“…In addition, 3 times a day dosing is preferred (to 2 times a day dosing) to decrease the likelihood of acute blood pressure drops 82. In the largest studies to date, propranolol has been safe and effective in patients with PHACE(S) syndrome,103,104 and case reports suggest the same for patients with LUMBAR syndrome 105,106…”

“…82 In the largest studies to date, propranolol has been safe and effective in patients with PHACE(S) syndrome, 103,104 and case reports suggest the same for patients with LUMBAR syndrome. 105,106 Careful education and anticipatory guidance for caregivers about IH and its therapy are necessary to ensure that parents understand the natural history of IH and also that the correct dose of propranolol is administered. It is imperative that caregivers are taught to check medication labels to verify concentration of propranolol, and that dose changes are clearly communicated.…”

Pleuri-segmental ipsilateral nonsyndromic infantile hemangioma responding favorably to oral propranolol

“…[ 1 ] As with other segmental lesions, mosaicism has been the proposed mechanism for the occurrence of such hemangiomas. [ 2 ] However, others believe that patterns of segmental hemangiomas (especially of the face) are usually neither blaschkoid/dermatomal nor do they correspond to sensory nerve distributions/known embryonic segments. [ 3 ] Large segmental IHs are often associated with underlying malformations, particularly PHACES and PELVIS/LUMBAR syndromes.…”