Which are the causes of Scleroderma?

The exact cause of scleroderma remains unknown, but it is widely understood to be a complex autoimmune condition triggered by a combination of genetic predisposition and environmental factors that lead to the overproduction of collagen.

Understanding the Mechanisms

In scleroderma, the immune system mistakenly attacks the body's own healthy tissues. Think of the body’s collagen production as a manufacturing plant; in a healthy system, it produces just enough to repair skin and organs. In scleroderma, the "control switch" for this plant gets stuck in the "on" position, leading to an excessive buildup of fibrous tissue, which causes the hallmark hardening and thickening of the skin and internal organs.

Genetic and Environmental Factors

While scleroderma is not a simple hereditary disease—meaning it is not passed directly from parent to child through a single gene mutation—it does have a genetic component. Researchers have identified associations with specific human leukocyte antigen (HLA) genes that may make some individuals more susceptible. However, genetics alone are rarely enough to trigger the disease. Environmental exposures, such as certain occupational chemicals (e.g., silica dust or organic solvents), are suspected to act as "triggers" that wake up these underlying genetic vulnerabilities in susceptible individuals.

The Distinction: Causes vs. Risk Factors

It is important to distinguish between a cause (the direct mechanism) and a risk factor (a condition that increases the likelihood of disease). In scleroderma, we have identified many risk factors, such as environmental exposure or gender—as it affects women more frequently than men—but we have not yet identified a single, definitive "cause" that initiates the process in every patient. Current research is heavily focused on epigenetics and the gut microbiome to understand why the immune system suddenly decides to turn against the body. Ongoing studies are exploring how these internal and external factors interact, aiming to move beyond symptom management toward true preventative medicine for those living with scleroderma.

Disclaimer: This information is for educational purposes and does not replace professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD)


• Orphanet (The portal for rare diseases and orphan drugs)


• Scleroderma Foundation


• OMIM (Online Mendelian Inheritance in Man)