LUMBAR Syndrome and how it relates to PHACE
Since the discovery of PHACE Syndrome, other syndromes have emerged that doctors believe to be related.
The terms PELVIS Syndrome was coined in 2006 and SACRAL followed in 2007. In 2010, new discoveries were made, with doctors coining a different term to incorporate all the abnormalities, called LUMBAR Syndrome. In 2016, LUMBAR officially replaced PELVIS and SACRAL, as it most accurately describes the current understanding of the affiliated anomalies. This is important because it shows that doctors now believe these are all part of one syndrome, where each person has a unique combination. See below for more information.
What's also key is that doctors are noticing key similarities between LUMBAR and PHACE Syndromes - leading them to believe they are "regional variations of the same pathological process," or sister syndromes. Researchers believe the same change in the genes causes both of these syndromes and it just depends which parts of the body the change occurs in. PHACE affects mostly regions on the upper body, while LUMBAR affects areas mostly on the lower body One of the reasons researchers think the syndromes are related is that some people have a combination of both. One of the most important things we can all do is JOIN THE REGISTRY. Doctors on are on quest to find a cause and best treatment protocols, and this is vital to those efforts.
L - Lower Segmented Hemangioma
U - Urogenital Defects
M - Myelopathy of the spinal cord
B - Boney Deformities
A - Arterial and Anorectal defects
R - Renal anomalies
Download an informational brochure here.
LUMBAR Syndrome now incorporates two previously-named syndromes:
P - Perineal haemangioma
E - External genitalia malformations
L - Lipomyelomeningocele
V - Vesicorenal abnormalities
I - Imperforate anus
S - Skin tag
S - Spinal dysraphism
A - Anogenital anomalies
C - Cutaneous anomalies
R - Renal and Urologic anomalies
A/L - Angioma of Lumbosacral localization
Every case is unique, and getting the appropriate care teams in place as soon as possible is key to a person's best possible outcome.
The most prominent feature of LUMBAR is a large infantile hemangioma on the lower back often extending down to the leg. An infantile hemangioma is a special type of vascular birthmark that can grow rapidly. Infantile hemangiomas in children with LUMBAR may ulcerate and can be very painful. Early evaluation and treatment will help to stop the growth of the infantile hemangioma, heal ulcerations, and prevent complications. Infantile hemangiomas can be difficult to diagnose, since they appear more bruise-like and subtle at birth. Within a few weeks they can grow and cause ulcers that are difficult to care for. One of the most important care teams for someone diagnosed with LUMBAR is a dermatologist. With their guidance towards the correct medicine regimen, the infantile hemangioma tissue can be managed during its aggressive growth period. Sometimes this birthmark is the first part of the puzzle to be recognized, but in other babies, it may be another characteristic such as a displaced anus, single kidney or bony defect, such as a shorter limb. Radiology tests and imaging, such as ultrasounds or MRIs might be needed to help make the diagnosis.
Once the hemangioma and one or more of the additional complications are identified, the diagnosis of LUMBAR may be made.
Additional characteristics that can be associated with LUMBAR are:
Not every LUMBAR patient will have all of the characteristics listed. The severity of each characteristic associated with LUMBAR can vary from mild to severe.
Are There Others?
Yes! As rare of a syndrome as this is, there is a group of parents who are connecting with each other and raising awareness of LUMBAR syndrome for our children. We want every patient with LUMBAR to get the necessary care he or she needs We are pioneering this syndrome! The children, families and parents of children with this syndrome are coming together.
Here are links to help you connect with others:
LUMBAR / PELVIS Syndrome Community: This is a closed Facebook Group for Parents and Primary Caregivers Only
LUMBAR/PELVIS Syndrome Community Friends: Friends Facebook page for extended family members, friends and professionals with an interest in LUMBAR.
Help Our Research Efforts
If you or your child has been diagnosed with LUMBAR, PELVIS or SACRAL Syndromes, one of the most important things you can do is join the LUMBAR and PHACE Syndrome Registry: http://www.phaceregistry.com
LUMBAR/PELVIS Care Teams
In addition to Dermatology, that could be involved in the care of someone with LUMBAR would be: