Pediatric Diagnosis

Pediatric Diagnosis

The information on this page is intended to help you understand the diagnostic process so that your discussions with 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 in rheumatology to be able to diagnose and treat of 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)

Juvenile localized scleroderma is a clinical diagnosis, which means that it is made mainly through patient symptoms and signs on medical examination, and sometimes with the aid of supportive evaluations, such as laboratory and imaging studies.

Examples of clinical findings and symptoms include skin changes and changes in other body areas, usually near the skin lesion.

Skin changes include changes you can see, such as different colors (pink, red, purple; ‘bruise-like’; lighter; darker; whitish-yellow), losing hair on face or scalp, and differences in the size of an affected area (depressed or smaller). There are changes you can feel, such as harder skin, tighter skin, different texture, and itchy skin.

Changes also occur in other body areas, usually near the skin lesion. This involvement may affect how your child plays or can use their body.

More information about examination findings and organ involvement

SKIN CHANGES

Skin changes are typically in lines or patches, and can affect different layers of the skin. Some are more on the surface, some are more in the deep tissue (fat and fascia – layer between fat and muscle), and can cause a divot, groove or dimpling. Some affect both surface and deep tissue.

When the skin is more active or inflamed the skin can be pink, red or purple. Sometimes there is a rim of the colors in a circle around the skin lesion(s). It can feel firm, thick, or hard to move or pinch, and it can look white, yellow or ‘porcelain –like’.

When skin starts to show some damage, the features can be brown or white pigment changes. It can be thin skin making it easy to see the veins. The fat can become thin and appear as depressed areas of skin and fat. The remaining areas are thick or hard to move.

MUSCLE, JOINT, LIMB

These tissues and areas are usually affected under or near the skin lesion, most commonly a linear scleroderma lesion (subtypes described elsewhere). However, in some individuals this involvement is remote from the skin lesion.

Muscle girth (size) may be smaller on the affected side or area. The muscle may be weak (although this is uncommon).

Joints where or near the skin or deeper lesions may have swelling, tightness or pain with motion, limitation in their range of motion (flexion or extension joint), or weakness (meaning grip strength, if wrist or hand is affected).

An entire limb or section of an arm or leg with an affected area may be smaller in length or width (girth). This includes smaller hand, foot or fingers and toes.

NERVES

Nerves in the body, including limb and face, can also be affected by scleroderma. This can cause different feelings at the site including pins and needles, or odd feelings or pain. This can also cause the muscle to twitch or spasm.

HEAD

When there are skin changes on the face or scalp, it’s possible there can also be involvement of other features. The eyes can become dry or have vision trouble. Headaches might occur; in rare cases seizures occur. Hair loss can occur on the scalp in a specific patch, in a circle or line, possibly with an indent in scalp; and there can be an isolated area of hair loss in the eyebrows, eyelashes, or mustache.

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

BREAST & BUTTOCK

The tissues of the breast and buttock can be affected on one side of the body, causing asymmetry of these tissues due to undergrowth and atrophy of the affected side.

GASTROINTESTINAL TRACT

Some children with scleroderma have symptoms such as reflux, heartburn, dysphagia, nausea, abdominal pain. These problems can be related to involvement of the esophagus, but are also common in the general population, so may or may not be related.

HEART, LUNG, KIDNEYS

It’s rare for the heart, lung, or kidneys to be affected by localized scleroderma. Studies have found rare instances of children with juvenile localized scleroderma to have mild abnormalities in the heart or lung. The abnormalities usually do not adversely affect the child and were not found to worsen over time in the studies that followed the child.

If several of these signs and symptoms are present during the clinical visit, usually that is enough to suspect and confirm the diagnosis.

Additional testing may be helpful for the doctor to either further clarify the diagnosis or to evaluate the disease state and/or extent of the disease in skin and deeper tissue.

Additional Testing

Bloodwork

  • Markers of inflammation, markers of muscle injury, auto-antibodies

Skin Biopsy

  • This involves taking a small piece of skin tissue to look for signs of inflammation and scar tissue under the microscope
  • If the diagnosis is not clear, this is helpful to look for other causes

Imaging

  • Ultrasound of the skin, fat, fascia, and superficial muscles can evaluate for inflammation and other changes in these tissues
  • Magnetic Resonance Imaging (MRI) images of MRI machine is used to evaluate skin, fat, fascia, muscle, tendons, joints for inflammation of these layers and other changes. It provides more information on deeper structures (i.e., joints, tissues behind a bone, deep muscles) and assesses a larger area than ultrasound.

Special tests when LS affects the head

  • Imaging: MRI of the brain to look for changes in white matter tissue and vessels; and Panorex (dental X-rays) to look for underdeveloped dental roots and tooth health.
  • Eye examination to look for any inflammation or dryness in the eyes.
  • Dental examination to look for any changes to the gums, teeth or alignment of the jaw.

Our immune system protects us by removing germs and foreign material that may enter our body. During this process, inflammation may naturally occur but eventually subsides. In localized scleroderma, also termed morphea, the immune system is not working correctly and causes prolonged inflammation of the skin and often o the underlying tissues, which then triggers fibrosis. Localized scleroderma is an autoimmune disease.

Overall, there are many players and signals within our immune system. However, two main branches exist, each with a unique function, the innate immune system (fast responders) and the adaptive immune system (slower, more unique, targeted). The adaptive immune system kills infected cells, suppresses or promotes inflammation, and makes antibodies (and more).

Causes of Localized Scleroderma

In normal immune response to a common virus or ‘cold’ and other exposures throughout life, the immune system mounts a response to the virus and sends its messengers out to attack the virus and remove the ‘threat’.

In autoimmune diseases in general, the virus which the immune system was attacking usually gets removed by the adaptive immune system, but instead of the cells of this system going back to a neutral state after the initial attack, these cells stay on ‘high alert’ and can start attacking normal healthy tissues in the body.

This autoimmune phenomenon may be more likely to happen in the setting of a ‘genetic predisposition’ or environmental background, but these additional factors are unclear and are currently being investigated by researchers.

In localized scleroderma, the immune system targets the skin and tissue underneath as the ‘foreign object’ it is defending against. This leads to extra immune cells and inflammation in the tissue that should not be there; this causes the skin to start to change with some disease activity features.

After a period of time these skin changes also will tend to be more permanent like a scar. Inflammation is linked to the body’s normal repair system. So, persistent inflammation triggers skin cells to make collagen, a normal repair protein. Normally, extra collagen gets cleaned up when the repair is done, but in localized scleroderma, the skin cells will keep making more and more collagen rather than stopping and cleaning up the excess collagen.

If left unchecked, this can result in a thick build-up of scar-like collagen, and the loss of healthy cells of the skin, muscle, bone, and other tissues.

Today, the answer is no, but this is actively being researched. There are genes in the DNA (studied in the blood and spit) and RNA (expressed in the skin) that are being evaluated.

Genetic Markers or Tests

Genetic typing or genotyping is a process to identify differences in the genetic composition of an individual by comparing its DNA to another individual or a reference.

The genetic typing of general immune markers, such as the Human Leukocyte Antigen (HLA) responsible for the regulation of the immune system, have been started to be identified in localized scleroderma compared to healthy people.

The more specific testing of particular genes that may be causing or triggering localized scleroderma is still unknown.

There is currently investigation into more specific parts of the immune system through DNA and RNA studies using spit, blood and skin samples.

An example of a study is a “Trios” study looking at the DNA of the immune system in the saliva (spit sample) from the child with localized scleroderma, and comparing to their Mom and Dad’s DNA in their saliva.

Identifying a group of immune or fibrosis-related genes that are different in the child from the parents from one set of trios can then be compared to genes found in other LS children with ‘trios’, helping researchers hone in on the key immune and fibrotic pathways that are likely propagating LS.

Localized scleroderma (LS) is a rare disease and exact numbers are not known, largely due to limitations of data collection. Current studies suggest that 1 to 3 out of 100,000 children develop LS per year, and that approximately 50 out of 100,000 children in the United States have the condition. Juvenile LS (jLS) is slightly more common in girls than in boys, and the average onset age is between 6 and 8 years old.

Who gets scleroderma? Here is a closer look at what current research indicates:

  • LS is more common in the pediatric age group than it is in adults
  • Children with LS typically have the linear subtype (see subtypes below)
  • jLS is more prevalent in Caucasian children
  • Compared to other pediatric rheumatologic conditions in one North American registry of almost 10,000 children and adolescents:
    • jLS is 17 times less common than juvenile idiopathic arthritis (JIA)
    • jLS is 2-3 times less common than lupus
    • jLS is 6-10 times more common than juvenile systemic sclerosis

Localized Scleroderma can present in several different patterns called subtypes. There are four main subtypes, and then another subtype is a combination of more than one subtype (mixed morphea).

The chart shows the relative frequency in pediatric onset of the different subtypes.

Types of Scleroderma

Linear Scleroderma occurs approximately in 40 to 60 percent of cases. Includes linear scleroderma of the trunk/limbs and linear scleroderma of the head. It is the most common form of jLS. Lesions in general can be superficial (limited to the outer layers of skin) or deep (involving deeper tissues and resulting in a bound-down lesion).

Linear scleroderma affecting the trunk/limbs. Skin lesions follow a distinct line or band-like pattern along the limbs and sometimes the trunk. These sometimes start as separate lesions that later coalesce (come together). If this happens over a joint, it can impair the joint’s normal movement. On the extremities, this can cause asymmetry in the length and girth of the affected limb compared to the unaffected side.

Linear scleroderma affecting the head (face/scalp). Skin lesions also tend to follow a band-like pattern or affect a segment, or part, or one side of the face. When this happens in a more clear line/band/streak on the head, it is also referred to as en coup de sabre (from French: “the strike of the sword” to account for its typical linear depression). When this happens in a general section of the face or side of the face which causes noticeable tissue loss, it tends to be termed Parry Romberg syndrome or hemifacial atrophy, signifying the smaller affected side of the face.

En coupe de sabre and Parry Romberg syndrome are all part of the spectrum of linear scleroderma of the head, they just appear slightly differently, and in fact, several patients have features of both, either affecting one side or both. Since these are all part of the same spectrum, they are evaluated and treated the same way.

Circumscribed Morphea (plaque lesions) occurs in 15 to 30 percent of cases. It appears as oval or round skin lesions, and can be either superficial (limited to the outer layers of skin) or deep (involving deeper tissues and resulting in a bound-down lesion). Most often on the trunk (lower chest, abdomen, buttocks and upper thigh). The superficial type have a waxy, white appearance, with a more violet or pink colored rim. The deep type typically has little or no changes on the surface, sometimes a pink or purple hue, but more notably has a ‘punched out’ look to the fat, like a small crater.

Generalized morphea occurs in 6 to 10 percent of cases. Uncommon in jLS, it is defined as having four or more large circumscribed lesions on two or more areas of the body. There can be more superficial or deeper lesions. Sometimes, this can be very extensive and have deeper involvement of the joints as seen in linear scleroderma.

Pansclerotic morphea occurs in less than one percent of cases. It is a very rare, severe subtype with widespread and circumferential (all sides of the limb/trunk) involvement of the body. Typically, numerous joints are involved and experience limitation. Can be small to large joints. Risks can include skin ulcerations with later development of skin cancer.

Mixed Morphea occurs in 3 to 25 percent of cases. More than one of the above subtypes, usually this is a combination of linear scleroderma and circumscribed scleroderma.

Yes. There is no one “test” for scleroderma, leading to frequent misdiagnosis and delays in diagnosis.

Diagnosis is often not made for one year or longer because many doctors are not familiar with this condition. LS may resemble other more common conditions like infections or injuries and usually does not cause any pain or problems early on. The lack of a diagnostic test also contributes to misdiagnosis.

Diagnosis is based on clinical suspicion and, ideally, confirmed with a skin biopsy when uncertain. This can help see on the tissue level changes in the skin regarding key inflammation and fibrosis typical of scleroderma (LS or SSc). Other inflammatory disorders of the skin can also be ‘ruled out’ this way.

Once the diagnosis is established, early initiation of treatment is recommended in children and teens with active disease to reduce risk for severe damage and increase likelihood of remission (disappearance of the signs and symptoms of active inflammation).

Most children and teens with localized scleroderma who receive timely, appropriate treatment have a favorable prognosis and are fully able to participate in normal daily activities. The prognosis has greatly improved since 2000, related to advances in assessment and treatment.

Recent studies of patients followed by pediatric rheumatologists show a much lower frequency of severe functional impairment and need for major surgical intervention compared to earlier times https://pubmed.ncbi.nlm.nih.gov/31777788/; https://pubmed.ncbi.nlm.nih.gov/30563543/.

Work is ongoing to further improve the long-term outcome for children and teens with this disease.

Between 15 and 50 percent of children with localized scleroderma have been found to have a relapse or recurrence of disease after treatment, but these numbers require further study. Beginning treatment earlier was associated with lower risk for relapse in one study.

Unfortunately, there is currently no cure for scleroderma, but many are working towards this goal. In most children and teens, the disease goes into remission, meaning that it becomes inactive and does not need continued treatment with medications. Continued clinical monitoring for subtle disease replace is required though. Once the disease is inactive, the appearance of the skin lesions usually improves over time.

Managing a complex disease can be difficult for families–from scheduling appointments to reducing side effects. Some children with scleroderma may struggle with their appearance and with weight gain related to corticosteroid therapy. Others may face questions from peers or strangers. Families often face questions of “why did this happen to us?” Some children face challenges associated with having an “invisible and rare disease.” Parents have reported specific challenges at school that can often be addressed by improved communication, education, and a 504 plan at school. (INTERNAL LINK TO EDUCATION SECTION). Having adequate support from your child’s care team and community, can also help reduce this burden.

Beyond any initial damage that localized scleroderma may have caused, a majority of children will experience no impact from scleroderma into adulthood. It may become inactive and require no treatment. However, a child must follow up with rheumatologists and transition into adult care to monitor for relapses or recurrence of disease. Relapses can occur in 25 – 40% of children and young adults after stopping therapy. Future research may help us predict which patients will be at a higher risk of relapse.

Some children will not outgrow some types of damage from localized scleroderma. Growth abnormalities such as leg length discrepancy or facial asymmetry may be difficult to treat, highlighting the importance of early diagnosis and treatment. When these permanent changes occur, some children or adolescent may have difficulty coping with their appearance and may be prone to depression or anxiety. Having an open conversation about their feelings, recognizing symptoms of anxiety and depression, and receiving treatment for these are as important as managing their physical complaints. Click here to learn more about mental health care.

Children and adolescents often have difficulty expressing their emotions and lack the coping mechanisms to deal with a challenging disease while their brain is in development. Family, school, and community support are essential in helping your child recognize and name their emotions as well as cope with the effects of localized scleroderma.

As children try to process what’s happening in their lives, it’s normal for them to manifest sadness in many different ways. Response to sadness may appear as anger, boredom, apathy, frustration, or resistance. Being aware of these feelings or behaviors is the first step to recognize anxiety or depression.

What to do as a parent/caregiver if your child is struggling with anxiety or depression from LS?

  • Check within yourself and recognize your own emotions
  • Acknowledge that they are living through a difficult time in their life
  • Watch for behavioral changes
  • Talk to your child openly about localized scleroderma
  • Reassure that they are safe and have your support
  • Let them know it is okay if they feel upset for what is happening in their body
  • Teach them to be an advocate for themselves and be open to discuss their disease and struggles with other people that don’t understand what it means
  • Spend time alone with your child in meaningful activities
  • Encourage your child to participate in peer support groups
  • Seek help of a mental health professional when needed or ask your pediatric rheumatologist for a referral to a mental health professional who is familiar with chronic diseases in children

 

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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.