As a pediatric rheumatologist at HSS, I have treated a number of young patients with different forms of scleroderma. Though many people think of scleroderma as being an adult disease, it can occur in children as well, and there are important differences between both forms. Scleroderma in children is rare, and it may take months or even years before a patient gets the right diagnosis. A pediatric rheumatologist is the best person to diagnose and treat scleroderma in a child.
Scleroderma means “hard skin”.
- The name scleroderma is a combination of the Greek words for “hard” and “skin.” For many children, this is the main manifestation of this disease. The skin may initially feel thick or swollen, and may eventually develop a waxy texture and feel tight or bound-down. Some children have a form of scleroderma where the skin all over their body changes, while some have a form where only a small part is affected.
There are two main forms of scleroderma in children.
- Systemic sclerosis: Children with systemic sclerosis have a disease which affects multiple organ systems in their bodies. This type of scleroderma is seen more commonly in adults, and is very rare in children. The first symptom in many children is Raynaud’s Phenomenon, where color changes in the fingers can occur with cold exposure. These children may experience symptoms such as fatigue, muscle aches, or joint pain. They may also have GI issues including problems with swallowing, acid reflux, constipation or diarrhea. At some point, they may develop problems with their hearts, lungs, or kidneys. Because of this, it is important that children with systemic sclerosis be carefully monitored by a doctor with experience in treating this disease.
- Localized scleroderma (morphea): In comparison to those with systemic sclerosis, children with localized scleroderma, also known as morphea, have a disease which typically affects only their skin. Though still a rare disease, this is the most common type of scleroderma in children, and it does not usually present in adulthood. In the mildest form, circumscribed morphea, children may have only one or two small round skin lesions, which may look like birth marks. Some children have hardening of the skin on a part of their arm or leg; if this skin crosses a joint, it may cause problems with moving the limb. Localized scleroderma may also affect the face. Patients with the most severe form of facial involvement, also known as Parry Romberg Syndrome, may have involvement of their brains or eyes as well.
Scleroderma is treated with immunosuppressive medicines.
- Treatment for scleroderma depends on the type of disease and the level of involvement of the skin and internal organs. Children with mild circumscribed morphea may require only topical medications, typically prescribed by a pediatric dermatologist. Most other children with localized scleroderma will need treatment with a stronger medication. Typically, a medicine known as methotrexate, which can be taken orally or by injection, is used for localized scleroderma. Other medications, including steroids, may be used as well. In some patients, the localized scleroderma lesion will become inactive over a few months or years, and at that point, the medication may be safely weaned with close monitoring. Children with systemic sclerosis usually require long term treatment. There is no single therapy that works for all pediatric patients with systemic sclerosis, and treatment is carefully tailored to the symptoms and organ systems involved. Medications may include antihypertensives such as nifedipine, immunosuppressive agents such as methotrexate, and chemotherapy such as cyclophosphamide. In addition to medical treatment, patients with all forms of scleroderma can benefit from physical therapy, support groups, and early education.
Research is important to better understand the causes and treatments.
- At this time, the cause of scleroderma and the relationship between the various types is not fully understood. Genetics, the environment, and abnormalities in the cells of the skin, blood vessels and immune system all likely play a role. Research is currently underway at HSS into the root of this complicated disease. Additionally, HSS collaborates with other institutions around the country and the world to better understand the course, prognosis, and optimal treatment for children with scleroderma.
Dr. Sarah Taber is a Pediatric Rheumatologist at Hospital for Special Surgery and specializes in the diagnosis and treatment of children with rheumatic diseases, including juvenile idiopathic arthritis, childhood systemic lupus, dermatomyositis, vasculitis, and systemic and localized scleroderma.