Diagnosing Pediatric Localized Scleroderma

Pediatric Localized Scleroderma Diagnosis

The information on this page is intended to help you understand the diagnostic process so that your discussions with your child’s physicians is more focused and productive.

Key Terms to Understand Localized Scleroderma

  • Inflammation: active immune system response
  • Fibrosis: too much collagen, leading to hard skin
  • Atrophy: loss of normal tissues
  • Extracutaneous Involvement: when the disease goes deeper than the skin or in areas other than the skin, and affecting tissues like joints, muscle, bone, nerves (when located on the arms or legs); and eye, teeth, nerves, brain (when located on the head).
  • Pediatric Rheumatologist: a physician who trained in pediatrics and then completed a fellowship in pediatric rheumatology to be able to diagnose and treat inflammatory musculoskeletal disease, including autoimmune diseases like scleroderma.
  • Dermatologist: a physician who has been trained in dermatology and can diagnose and manage diseases of the skin; can be someone focused on skin diseases in children (pediatric dermatologist)

How is Pediatric Localized Scleroderma Diagnosed?

Juvenile localized scleroderma diagnosis starts with an exam to check your child’s signs and symptoms, plus some lab tests and imaging, like MRI or ultrasound.

Your doctor may refer you to a specialist in this disease, like a pediatric rheumatologist or dermatologist, for a diagnosis.

Juvenile localized scleroderma can cause changes to the skin:

  • Color changes: pink, red, purple, or bruise-like patches
  • Tone: Lighter or darker than usual, or whitish-yellow
  • Areas of skin look pressed-in, dented, or smaller than usual
  • Hair loss on the face or scalp
  • Harder, tighter skin
  • Itchy skin

Skin changes may affect how your child moves, plays, brushes their teeth, or picks up objects.

Expand for more info on your child’s first exam, and how juvenile localized scleroderma can affect organs too.

Skin changes often look like lines or patches. They can appear on the skin’s surface, deep inside the skin, or even the layer between fat and muscles. Deep changes and can look like a divot, groove, or dimpling on the skin.

Active, inflamed skin may look pink, red, or purple. Your child may have a rim of colors in a circle around their skin lesions. These changed skin areas can feel firm, thick, or hard to move or pinch. They can look white, yellow, or like porcelain.

If skin is damages, you may see brown or white pigment changes. Skin may look thinner: it’s easy to see their veins. Your child may lose fat in these areas, so they look depressed, while other areas are thick or hard to move.

Muscles, joints, and limbs may be affected. These usually happen under or near skin lesions, especially linear lesions. Children may have muscle, joint, or limb symptoms far from lesions too.

Muscles: Your child’s muscles may look smaller on the affected side. Muscles may be weak, but it’s less common.

Joints: Joints may swell near skin lesions or deeper lesions. They may have joint tightness, pain with movement, limited range of movement, or weakness (less grip strength if their wrist or hand is affected).

Limbs: An arm, leg, or section of a limb may look shorter or narrower. This can affect hands, feet, or fingers and toes too.

Your child may have different feelings around lesions, like “pins and needles,” odd sensations, or pain. That’s because their nerves are affected. They may have these feelings in their limbs or face. Muscle twitches or spasms sometimes happen too.

Skin changes on the face or scalp may cause other symptoms, like dry eyes or vision problems. They may have headaches or, in rare cases, seizures.

Children may have patchy hair loss on the scalp. Hair may fall out in a circle or line. They may have an area that looked “dented” on their scalp too. Some children have patches of hair loss in the eyebrows, eyelashes, or mustache.

Teeth can become overcrowded and out of line. Adult teeth may have root problems. Their temporomandibular joint (TMJ) or jaw may hurt or feel stiff.

Breasts and buttocks may change on one side of the body. These areas may look uneven. That’s because deeper tissues may not grow normally or may atrophy (waste away).

Children may have acid reflux, heartburn, trouble swallowing, nausea, or belly pain. These symptoms may be caused by scleroderma changes in their esophagus, but not always. Reflux, heartburn, and stomach upset are common health problems.

It’s rare for localized scleroderma to affect the heart, lung, or kidneys. Recent studies show that a very small number of children have mild heart or lung symptoms. Usually, these don’t cause any problems and don’t get worse over time.

Read about additional tests for pediatric localized scleroderma.

Are Kids Sometimes Misdiagnosed?

Yes. There is no one “test” for scleroderma. Sometimes, this can lead to an incorrect diagnosis or delays in diagnosis.

Diagnosis of scleroderma may take a year or longer because many doctors don’t know much about this condition. Localized scleroderma may look like signs of infection or past injuries. Early on, people may not have any pain, stiffness, or other problems associated with the disease. Because there’s no diagnostic test right now, doctors may unkowingly misdiagnose the cause of skin changes.

Diagnosis is based on how the skin looks and feels, or joint or muscle changes, during a physical exam. If your doctor is uncertain, they should confirm diagnosis with a skin biopsy. A biopsy can show changes deep inside tissue in the skin, including inflammation and fibrosis typically seen in localized scleroderma (LS) or systemic sclerosis (SSc). They can also rule out other inflammatory skin diseases with a biopsy.

Once a diagnosis is confirmed, it’s important to begin treatment early in both children and teens with active disease. Prompt treatment can help reduce the risk for severe damage. It can also make it more likely that a child’s disease will go into remission. That’s when signs and symptoms of active skin inflammation go away altogether.

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Where to Start Find Your Path

No two scleroderma journeys are the same, but there are common experiences along the way. No matter where you, your child, or a loved one are in your journey, or the type of scleroderma, the National Scleroderma Foundation can help you find your best path.