What is scleroderma?

Scleroderma means hard (sclero) skin (derma). It is a rare autoimmune disease in which normal tissues are replaced with dense, thick scar tissue. Scleroderma can affect the skin or other organ systems. In children, scleroderma most frequently affects only the skin.

What are the types of pediatric scleroderma?

There are two broad types of scleroderma:

  • Localized scleroderma – most common in children. This form of scleroderma does not change into the generalized forms of scleroderma.
  • Systemic scleroderma (sclerosis) – rare in children.

Localized scleroderma

Localized scleroderma is the most common type of scleroderma in children and it usually affects the skin, only occasionally spreading to the underlying muscles.

There are two main types of localized scleroderma: linear scleroderma and morphea.

When the areas of skin affected appear in a band, it is called linear scleroderma. Linear scleroderma most often occurs on an arm or leg and occasionally on the face or neck. It can result in cosmetic problems, growth abnormalities of the affected area and if it crosses joint lines, limitation of joint motion and contractures (inability to straighten the joint).

Skin changes that appear in patches – either as a single patch or in a group – are called morphea. Morphea appears waxy and usually has an ivory or white color.

In both linear scleroderma and morphea, the skin may change to appear white with purple borders.

In addition to skin changes, a child with systemic sclerosis may also develop problems with internal organs (such as the kidneys, heart, lungs and gastrointestinal tract). Children with systemic sclerosis have more widespread skin changes that can result in limited joint movement.

Raynaud's phenomenon (white, blue and red color changes of the fingers and/or toes upon exposure to cold or stress) is present early in a child with systemic sclerosis, as well as fatigue, joint pain, difficulty swallowing, abdominal pain, heartburn, diarrhea and shortness of breath.

Children with systemic sclerosis should be checked often for high blood pressure, as well as lung, kidney, gastrointestinal and heart problems, to detect and treat potential internal organ involvement.

Who is affected by pediatric scleroderma?

There are only 5,000 to 7,000 children with scleroderma in the United States. Only 1.5 percent of all people with scleroderma develop it before age 10, and 7 percent develop it between ages 10 and 19.

Two thirds of children who acquire scleroderma are female.

What causes pediatric scleroderma?

The exact cause of pediatric scleroderma is unknown. It seems to involve a disorder of the cells lining small blood vessels.

Scleroderma may also be related to defects in the immune system, in which the body's normally protective defense system causes damage to its own tissues.

Normally, the immune system helps defend the body against infection. In patients with scleroderma, the immune system triggers other cells to produce too much collagen (a protein). This extra collagen is deposited in the skin and organs, which causes hardening and thickening (similar to the scarring process).

Scleroderma is not contagious, so people cannot "catch it" or pass it on to someone else.

What are the signs and symptoms of systemic sclerosis?

The skin changes of systemic sclerosis can include:

  • Loss of the skin's ability to stretch
  • Light or dark discoloration of the skin
  • Thinning of the skin
  • Curling of the fingers (contractures)
  • Decreased hand function because of skin tightening on fingers and hand

Initially, the skin of the hands and feet appears swollen. Over time, the skin tightens and hardens and may appear to have ridges, depressed areas, or small pits that are seen mostly at the fingertips.

Since there is not much pain, it is common for scleroderma to be present for quite some time before a parent or child becomes concerned.

Other signs and symptoms of systemic sclerosis may include:

  • Joint inflammation with stiffness and pain.
  • Raynaud's phenomenon – abnormal sensitivity to cold, which is usually seen in the hands. Signs include color changes in the hands (white, blue, red), tingling, discomfort, and decreased sensation.
  • Sores (ulcers), mostly on the finger tips.
  • Digestive problems (heartburn, trouble swallowing, diarrhea, stomach cramps).
  • Itching.
  • Fatigue (easily becoming tired).
  • Muscle weakness.