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LUMBAR syndrome
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LUMBAR syndrome

Contributors: Sam Logan MA, Keith Morley MD
Other Resources UpToDate PubMed

Synopsis

Segmental lower body infantile hemangiomas are important to recognize and follow closely, as these are well known to accompany multiple other congenital anomalies. They have a possible female predominance and no known etiologies or risk factors.

LUMBAR is the acronym for Lower body hemangioma, Urogenital abnormalities / ulceration, Myelopathy, Bony deformities, Anorectal malformations / arterial anomalies, and Rectal anomalies. This association has previously been described as SACRAL (Spinal dysraphism, Anogenital, Cutaneous, Renal and urologic anomalies associated with an Angioma of the Lumbosacral region) and PELVIS (Perineal hemangioma, External genital malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag). LUMBAR is currently considered the preferred nomenclature.

Lower body infantile hemangioma and cutaneous defects: Segmental type infantile hemangiomas are larger (> 5 cm) and may correspond to neuroectodermal placodes. Of cutaneous defects, ulceration is found to be most common, with other defects including lipoma, acrochordon, caudal appendix, nevus, and sacral dimple. Of note, ulceration may occur in diaper region secondary to irritation. Congenital anomalies bear an association with the region affected by infantile hemangiomas. Lumbar infantile hemangiomas were found to be correlated with myelopathy with two or more congenital midline skin lesions, such as lipoma, being a strong indicator of the presence of an anomaly. Sacral infantile hemangiomas were correlated with urogenital and renal anomalies as well as anorectal malformations.

Urogenital: Anomalies vary widely including, but not limited to, bladder extrophy, pyelo-ureteral duplication, and ambiguous genitals.

Myelopathy: This is the most common congenital anomaly found in LUMBAR syndrome. This may include tethered spinal cord, lipomyelocele, and lipomyelomeningoceles. Other abnormalities include syrinx formation and abnormal termination of conus medullaris.

Bony abnormalities: Includes deformity of the foot, leg length discrepancy, hip dysplasia, sacrum abnormality, and scoliosis.

Anorectal: Imperforate anus is most commonly found. Other abnormalities include fistulas, anterior displacement, and stenosis of the anus, as well as deviated gluteal cleft.

Arterial: Dysplasia and narrowing have been found to be most common; however, noninvolution of embryonic anastomoses and altered vascular course or origin were found as well.

Renal: Absence of a kidney most commonly found. Other abnormalities include hydronephrosis, pelviectasis, and incomplete ascension (pelvic kidney).

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
725138002 – PELVIS syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • PHACES syndrome – Association of infantile hemangioma and congenital anomalies of the upper body.
  • Cutis marmorata telangiectatica congenita – Vascular anomaly that commonly affects the lower limbs, appears reticular or telangiectatic, and may be associated with ulceration and atrophy of the skin or limb. However, it does not present with other features of LUMBAR syndrome.
  • Parkes-Weber syndrome – Congenital disorder with triad of capillary malformation, venous varicosities, and hypertrophy of affected limb. May present with spinal cavernous angioma; however, it does not have renal, genitourinary, or anorectal involvement.
  • Congenital hemangioma – Hemangioma which, unlike infantile hemangioma, is present in full at birth as either a plaque or exophytic mass. Further subdivided into rapidly involuting congenital hemangioma (RICH), noninvoluting congenital hemangioma (NICH), partially involuting congential hemangiomas (PICH), and fetally-involuting congenital hemangiomas (FICH). These are not associated with the cutaneous and visceral anomalies of LUMBAR syndrome.
  • Acrodermatitis enteropathica – Perioral, intertriginous, and acral dermatitis, alopecia, and diarrhea. Related to disordered zinc absorption. Symptoms occur shortly after discontinuing breast feeding.
  • Jacquet erosive diaper dermatitis – Rare severe papulonodular, erosive irritant contact dermatitis of genital or perianal region related to chronic urinary or fecal incontinence in patients who wear occluding garments over this region (eg, diapers).

Best Tests

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Therapy

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References

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Last Reviewed:09/24/2019
Last Updated:09/24/2019
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LUMBAR syndrome
LUMBAR syndrome : Sacral region of back
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