A new case of a LUMBAR syndrome

Abstract

LUMBAR syndrome (lower body congenital infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) is a rare association between infantile hemangiomas of the lower half of the body and regional congenital anomalies. Since 1986, 53 cases have been reported and no etiology has been identified. We report on the 54th case in a male infant and review the literature concerning the manifestations of the LUMBAR syndrome.

LUMBAR syndrome: A case manifesting as cutaneous infantile hemangiomas of the lower extremity, perineum and gluteal region, and a review of published work

“…Segmental IH in the lower body region is the marked feature of LUMBAR syndrome . Segmental IH may have a telangiectatic appearance or present as an erythematous patch in neonates, and thus they are easily misdiagnosed as port‐wine stains or cutis marmorata telangiectatica congenita, just as the appearance in our case.…”

“…As we know, only 55 cases have been reported since 1986. There is an overall female predominance (62.5%), just as that observed in PHACE syndrome (~80–90%) . Thus, we predict that this syndrome is more likely inherited in an X‐linked mode, with mosaic mutation occurring during embryogenesis in female fetuses causing segmental lesions, while inducing more serious or lethal phenotypes in male fetuses, just like incontinentia pigmenti.…”

“…Myelopathy is another most common manifestation in LUMBAR syndrome, present in almost 80% of cases . The most common defect is tethered cord . Other cutaneous defects such as skin tags and sacral dimples are other typical features.…”

“…Only 16% of cases reported arterial abnormalities. The iliac and superficial femoral arteries have been predominantly implicated . When the lower limb is extensively involved with IH, patients should undergo MRI/magnetic resonance angiography and magnetic resonance venography examination.…”

“…A long‐term follow up is needed. Renal syndromes and bony deformities have been discovered in 39% and 23% of patients, respectively …”