These are, by definition, rare diseases that occur in less than 1 in 2000. But they need to be recognised early; otherwise, the consequences can be devastating. Juvenile-onset SLE, or Systemic Lupus Erythematosus, is the most frequently encountered among these. There’s also a typical skin and muscle disease called juvenile dermatomyositis and a few other types.

Symptoms of Connective Tissue Diseases

Usually, one suspects these diseases when:

• A child could be running temperatures continuously for more than a couple of weeks without any identifiable cause.
• Sometimes they have typical rashes, the most classic of which occurs in a butterfly pattern over the face and cheeks around the nose.
• Some children develop ulcers on the lips and in the nostrils, but children can present with rashes over their body or, quite commonly in my practice, with no skin changes at all.
• Quite often, they will have increasing fatigue, loss of appetite, loss of weight, joint pain, and a general dullness, each of which is a nonspecific feature but adds to the overall picture.
• Children with systemic lupus erythematosus (SLE) may present with severe symptoms such as kidney failure, seizures, strokes, behavioural changes, or blackened digits. This multisystem involvement requires immediate medical attention. Awareness is crucial to differentiate SLE from other conditions, ensuring timely diagnosis and treatment.
• Children with juvenile dermatomyositis can present with very typical skin rashes as well as progressive muscle weakness, which is interpreted as fatigue.
• The children who were previously able to get up from bed and get ready by themselves find it difficult to initiate any movement and need help with the ordinary tasks of daily living.

Diagnosis and Tests for Connective Tissue Diseases

When the rash is typical, the diagnosis is rarely missed. However, if the rash is mild, atypical, or has been modified (usually with alternative medicines) by therapy, it can cause a delay in the diagnosis of the illness.

Usually, SLE occurs in adolescent girls, though it can occur in boys too. At least 20% of SLE patients have commenced disease in childhood < 18 years.

There is also a small group of children who start at a very young age (< 5 years) and usually have a genetic form with a variable severity.

When SLE starts in childhood, it’s often more severe than the disease that starts in adults, with a higher predilection for severe organ involvement requiring aggressive management compared to its adult-onset counterparts. Both because there is less awareness among professionals and because of the inconsistency of the association of definite pointers like the rashes, the diagnosis is often missed for a while.

Dermatomyositis in a child is usually easier to treat and has a better outcome than onset in adults. The only problem is the increased risk of calcium deposits under the skin, like large stony swellings that cause pain and infection, which occur in children, especially if early treatment isn’t aggressive enough.

The diagnosis comes with clinical suspicion from the symptoms and signs and initial, commonly done blood tests, and can then be confirmed by definitive blood tests, appropriate biopsies, and imaging as directed by the clinical features.

How Are Connective Tissue Diseases Treated?

The treatment is immunosuppression. It often involves steroids at the onset plus other immunosuppressive agents. The choice of the drugs depends on the severity of the presentation. There is an array of medications available with differing potencies. Children with severe presentations may require expensive medications like intravenous immunoglobulin and biologicals, and these can be life-saving.

Recognition of the actual severity of disease and treating according to severity—children with mild presentations shouldn’t be overtreated either—makes the difference between life and death and preserves organ function for the long term.

Treatment for SLE is lifelong, although in most children we are able to reduce the dose of steroids to minimal in a few a few months and stop in a couple of years. Secondary immunosuppressive medications are continued for longer periods of time, and there could be one drug called hydroxychloroquine left for a lifetime, which is a mild immunomodulant with many advantages for these children. The planning of treatment, the choice of drugs, and adjusting drugs to aid pregnancy and lactation when older are all standard protocols now.

Juvenile dermatomyositis, on the other hand, often requires an MRI of the muscle to make the diagnosis and, less commonly, a biopsy of the muscle. Treatment will include steroids in addition to secondary immunosuppression guided by the clinical presentation, and as mentioned earlier, expensive infusions may be required in some children. Most children are able to stop all medications after several years and can live a long and completely normal life, while a few children may not fare as well.

These diseases again must be treated in a multidisciplinary environment; a lot of specialists and care providers might be integrated, but with the rheumatologist's help.

These diseases must be treated in a multidisciplinary environment, involving numerous specialists and care providers, with the rheumatologist playing a central role. Early recognition and diagnosis of rare connective tissue diseases such as juvenile-onset systemic lupus erythematosus (SLE) and juvenile dermatomyositis are crucial to preventing devastating consequences. Collaboration among specialists ensures comprehensive care, optimising long-term outcomes for affected children.

The key is again:

• Thinking about it
• Picking up early
• Early and appropriate referrals
• Early and appropriately aggressive therapy

When I was doing my MD in the early 90’s, the 5-year survival of multisytem SLE had a 5-year survival of 5%—i.e., 95% of them died due to disease and complications. Today, in the developed world, where access to good care is present, the 5-year survival rate is 95%! If that’s not progress, then what is?