Emerging Research in Pediatric Localized Scleroderma

Sarah Taber, MD, briefly reviews her ongoing research on genetic drivers of localized scleroderma in pediatric patients.

Sarah Taber, MD, pediatric rheumatologist, at Hospital for Special Surgery in New York, NY, discusses the specialty of pediatric rheumatology and briefly reviews her ongoing research on genetic drivers of localized scleroderma in pediatric patients. 

Please scroll down to view a transcript of this video.

Video Transcript

My name is Sarah Taber and I am one of the pediatric rheumatology attendings at the Hospital for Special Surgery.

Pediatric rheumatology is a small subset of rheumatology. In general, it is a very small specialty; there are only about 300 of us in the country who do it. We see kids who have autoimmune and autoinflammatory disorders. A lot of what we see are children who nobody knows what’s going on with, so we get a lot of referrals from general pediatricians who say, “Could you help us figure out what’s happening here?” A lot of these kids had fevers and joint pains, symptoms like that, for years and have never been diagnosed. That is pretty common for us.

Pediatric rheumatologists typically see patients starting at infancy, up until the age of about 18 to 21, although it varies among pediatric rheumatologists for how long we will see them. At that point, we look to transition them to adult care, which can be a process because sometimes they get very attached to us. But we do this in conjunction with the adult rheumatologists, maybe over the course of a few sessions, and we will try to get them established so that they will continue following through, because a lot of these diseases that we see are chronic diseases.  They are diseases that people will have for life.

We use a lot of different treatments in these kids, ranging from something as simple as an NSAID (nonsteroidal anti-inflammatory drug), which could even be Motrin, all the way up to and including chemotherapy.

I started a research project in my fellowship looking at localized scleroderma, which is a rare disease that we see in pediatric rheumatology. It can be seen adult rheumatology also, but is much more common in children. Localized scleroderma is a type of scleroderma that predominantly affects kids. Instead of having involvement of the whole body and the organ systems, there will only be part of the body affected. So a part of the face, or maybe one limb, or maybe it will just be a stripe on the back. When children have localized scleroderma, it tends to follow certain patterns called Blaschko’s lines. These patterns correlate with the migration of embryonic stem cells. There are number of skin diseases that follow these Blaschko’s lines and they are typically thought of as being the result of somatic mosaicism or a mutation that happens later; so, not in the sperm or the egg, but when you are developing a ball of cells. So what we are doing is we are looking at 10 patients with localized scleroderma and we are doing skin biopsies from affected and unaffected skin. We are then looking at genetic changes that are present just in the affected skin in these patients. We are then trying to basically find genetic targets for what is causing this disease, which is poorly understood at the moment.

Pediatric rheumatology really is a very small field of medicine and not that many people go into it. It is hard to generate interest because a lot of people in pediatric residency might see maybe one or two cases of children with these diseases. A lot of hospitals don’t have attending pediatric rheumatologists on staff.  What first sparked my interest was actually that I was diagnosed with spondyloarthropathy as a teenager and was treated by a pediatric rheumatologist who later went on to become my mentor and my boss.

Pediatric rheumatology is a very exciting field in that there is a lot of research and it’s moving very quickly. A lot of the medications that we use—in fact, almost all of them—were approved in adults first and some of them are still only actually approved in adults. We have to adapt their use to the pediatric population. So, as the specialty grows, we are really seeing a lot of developments in terms of drugs that are being studied in the pediatric population and understood for their effects in children, as well.

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