Juvenile Systemic Scleroderma Center at UPMC Children's Hospital of Pittsburgh

If your child is diagnosed with systemic scleroderma (also called systemic sclerosis) we would be happy to see them at our multi-disciplinary juvenile systemic scleroderma (JSSc) center. This is a rare autoimmune disorder in children that causes thickness and tightening of the skin, decreased joint motion, and discoloration with coolness of the fingers and hands (Raynaud's phenomenon). Other internal organ involvement can occur in the muscle, heart, lungs, and gastrointestinal tract. These children need specialized medical treatment and physical and occupational therapy.

The Juvenile Systemic Scleroderma Center at UPMC Children's Hospital:

• Can help your child manage and control this condition as a team so they can live a more active and pain-free life.
• Is part of the Division of Rheumatology at UPMC Children's.
• Is the only center in the U.S. dedicated to diagnosing and treating children with this rare disorder.
• Is a multi-disciplinary center with many clinical services available to help better evaluate your child's scleroderma in the different organs.
• Is one of the few centers in the nation performing stem cell transplant therapy for certain patients with juvenile systemic scleroderma.
• Has a dedicated research program for juvenile systemic scleroderma.

Contact the Juvenile Systemic Scleroderma Center

To schedule an appointment, email scleroderma@chp.edu or call 412-692-5081.

What Is Juvenile Systemic Scleroderma?

JSSc is an autoimmune connective tissue disorder. For unknown reasons, the body attacks and damages its own tissues.

The resulting inflammation causes thick skin or scar tissue to form in all parts of the body.

JSSc facts

• JSSc is rare. It affects about 2 children in 100,000.
• Most children develop the disorder between ages 8 and 11, but may not be diagnosed until several years later.
• JSSc forms slowly and is a chronic (long-term) condition. It's not contagious.
• JSSc causes thick skin or scar tissue to form outside and inside the body. Thickened skin may limit your child's joint movement. Inside the body, scar tissue may form on the muscle, heart, lungs, kidneys, and digestive organs.
• Doctors and researchers don't yet know what causes the disease, but we are doing research at our center to help understand juvenile scleroderma.
• Localized scleroderma is another type of juvenile scleroderma. It often starts earlier in childhood and typically only affects the skin in one part of the body. It can affect underlying structures in the head (brain, eyes, jaw), or arms and legs (muscles, tendons, joints). It rarely involves internal organs, like heart or lungs.
  • For localized scleroderma affecting the head, please visit our Craniofacial Scleroderma website.

Juvenile Systemic Scleroderma Symptoms

Children who get JSSc often first show signs of Raynaud's phenomenon. The fingers of a child with Raynaud's change color (white, blue, or red) and may feel numb or tingle when exposed to cold or stress.

Other signs or symptoms of JSSc may include:

• Loss of the skin's ability to stretch.
• Decreased finger and hand function (from tightening of the skin in these areas).
• Joint inflammation with swelling, stiffness, and pain.
• Sores (ulcers) at the tips of the finger or toes (from repeated Raynaud's).
• Other skin changes:
  • Discolored skin (lighter or darker).
  • Red blood vessel patches on face (telangiectasias).
  • Calcium deposits in the skin (typically in areas of repeat trauma).
  • Tight skin around the face giving a "pinched" look to the nose and thin, tight upper lip.
• Digestive problems (heartburn, trouble swallowing, decreased appetite, losing weight).
• Muscle weakness (trouble getting up off the floor, lifting heavy item over shoulder level).
• Fatigue (becoming tired easily).
• Breathing problems (chronic cough, difficulty breathing with activities, tiredness).

Juvenile Systemic Scleroderma Treatments

There's no cure for JSSc. But we can help manage and control the disease by getting your child's inflammation under control.

The sooner we catch it, the better.

Treatments work best before the disease has progressed too far.

Our team of experts at the Juvenile Systemic Scleroderma Center works together to gain a comprehensive evaluation to recommend the best treatment for this rare condition.

Treatment may include:

• Corticosteroids.
• Medicine to increase blood flow, like Nifedipine, amlodipine, and sildenafil.
• Disease Modifying Anti-Rheumatic Agents (DMARDs) like Methotrexate, Mycophenolate mofetil, and hydroxychloroquine.
• Biologic Agents like Abatacept, Tocilizumab, Rituximab, and IVIG.
• Physical therapy for both general strength and range of motion of the arms, trunk, and legs, and specifically for respiratory muscle training.
• Occupational therapy especially to improve hand function.
• In certain cases, patients would be recommended for autologous (self) stem cell transplant after careful evaluation by the JSSc team.
  • Autologous Stem Cell Transplantation with CD34-Selected Peripheral Blood Stem Cells PBSC in Patients with Treatment Resistant Systemic Sclerosis (SSc) (NCT03630211) | Clinical Trials | UPMC Immune Transplant and Therapy Center

Your Child's First Appointment at the Juvenile Systemic Scleroderma Center

Please make sure your rheumatologist faxes all your child's medical records before the first appointment. We will review your child's complete medical history beforehand.

This includes lab and imaging results from your child's rheumatologist. Imaging results on a CD sent ahead of time are also very important so our center can review the imaging ourselves with dedicated pediatric radiologists.

Our doctors will:

• Perform a complete and thorough medical history.
  • Review current symptoms with the child and family.
• Look for physical signs of JSSc during a full physical examination
  • This includes certain measurements like scoring the skin thickness.

• Perform laboratory testing on the blood.
• Perform skin biopsy.
• Take an EKG and echocardiogram of the heart to see how it's working.
• Arrange for the child to have pulmonary function (breathing) testing.
• Arrange for the child to have GI testing to better look at the esophagus and stomach.

Why Choose UPMC Children's Hospital for Your Child's Scleroderma Care?

The Juvenile Systemic Scleroderma Center at UPMC Children's Hospital of Pittsburgh is the only one of its kind in the U.S. We focus on caring for kids with this complex disorder following a multidisciplinary approach.

We're leaders in research.

Our doctors are leaders in JSSc research.

• Torok Lab | Department of Pediatrics | University of Pittsburgh

Our cutting-edge research includes autologous stem cell transplant for treating JSSc. In this stem cell transplant, doctors use a person's own healthy stem cells to replace damaged cells.

• Autologous Stem Cell Transplantation with CD34-Selected Peripheral Blood Stem Cells PBSC in Patients with Treatment Resistant Systemic Sclerosis (SSc) (NCT03630211) | Clinical Trials | UPMC Immune Transplant and Therapy Center