Scleroderma is a rare chronic autoimmune disease that affects connective tissue, mainly causing an abnormal hardening of the skin. It is a condition that, despite being rare, is estimated to affect 3 out of every 10,000 inhabitants in Spain , which means around 14,000 people . In addition, it is four times more frequent in women than in men, and usually affects people between 30 and 50 years of age.
What is scleroderma?
As the word suggests, “sclero” means “hard” while “derma” means “skin.” Therefore, scleroderma is a connective tissue disorder characterized by hardening and thickening of the skin . Although it primarily affects the skin, it can also involve underlying structures such as fat, muscle, bone, or various internal organs.
It is an autoimmune disease characterized by an overproduction of collagen and other proteins, which is deposited under the skin and organs, causing thickening and hardening of the affected part.
There are two main forms of scleroderma: localized scleroderma and systemic sclerosis, which in turn are distinguished into two and three subtypes, respectively.
Localized scleroderma
Localized scleroderma is the most common form of scleroderma, and is limited to the skin and subcutaneous tissues . This type of scleroderma is classified into different types, which can coexist in the same patient, depending on whether it causes plaques (morphea scleroderma) or sclerotic bands (linear scleroderma).
Scleroderma morphea is the most common form of localized scleroderma. It is characterized by plaques that are initially erythematous, and then become sclerotic, indurated, white and surrounded by the erythematous halo (“purple ring”), which reflects inflammatory activity, to end up being painless, hypopigmented and atrophic. Briefly, it presents as patches of raised skin with changes in pigmentation, and usually with a smooth, shiny, hair-free surface.
Within morphea scleroderma, we can distinguish different types depending on the extent, location and depth of the condition: generalized, superficial, deep, pansclerotic, “coup de sabre” …
As for linear scleroderma , as its name indicates, it is characterized by a linear thickening of the skin. It occurs more frequently in children.
Scleroderma or systemic sclerosis
As the name itself indicates, this type of scleroderma affects at a systemic level . The abnormal growth of the connective tissue causes vascular damage and fibrosis (scar tissue) in the affected organs (skin, intestines, heart, lungs,…), since when the scar tissue in an organ, it stops working properly. There are several types of systemic sclerosis, depending on whether it has limited skin involvement, diffuse skin involvement, or no skin involvement.
Systemic scleroderma with limited skin involvement accounts for the majority of cases of systemic sclerosis. It progresses slowly and usually affects the skin of the face, hands, and feet. It can also be known as CREST syndrome , due to five of its most characteristic features: Calcinosis (abnormal calcium deposits in the skin), Raynaud’s syndrome (decreased blood flow in distal areas of the body, especially fingers and nose), Esophageal dysfunction (work capacity of the esophagus), sclerodactyly (thickening and hardening of the skin of the fingers) and telangiectasia (abnormal growth of blood vessels on the surface of the skin).
As for systemic scleroderma with diffuse skin involvement , it is usually rapid in onset, affecting the skin of the central part of the body, such as the thighs, arms, hands, and feet. In this type of systemic scleroderma, the involvement of internal organs is more common.
There are also some rarer types in which there is involvement of internal organs but not the skin, and they are known as systemic sclerosis without scleroderma .
What are the causes of scleroderma?
The exact cause of the overproduction of collagen characteristic of scleroderma is currently unknown, but the immune system appears to be involved. Even so, it is suspected that there are several factors that may be involved in its development, such as genetics, the environment, changes in the immune system or hormonal changes, but this theory has yet to be proven.
Signs and symptoms
The signs and symptoms of scleroderma vary from person to person , especially if they have different affected areas or different types of scleroderma.
Among the earliest signs and symptoms we can find swelling or itching, as well as changes in the color and texture of the skin . Digestive problems may also appear (heartburn, difficulty swallowing, abdominal swelling, constipation or diarrhea, fecal incontinence,…), heart and lung problems (feeling of shortness of breath, lower tolerance for exercise, dizziness, cardiac arrhythmias, hypertension hypertension, pulmonary hypertension,…), in addition to fluid accumulation in the lower limbs or in the heart, kidney failure, or joint pain, among others.
Also characteristic, as we have already mentioned, is Raynaud’s phenomenon , in which the tips of the fingers (and some other distal areas of the body) do not receive sufficient blood supply and change their color.
Diagnosis
Usually, when localized scleroderma is suspected, a blood test can be used, since positive antibodies can usually be detected, or biopsies confirm our diagnosis and delimit the depth of the condition. In some cases, an X- ray may also be helpful if bone involvement is suspected.
In contrast, with systemic scleroderma , the diagnosis can be difficult, especially at first, also because they share symptoms with other pathologies of the connective tissue, such as lupus or rheumatoid arthritis. All this, together with the fact that there is no specific test to detect it, makes reaching a diagnosis complex, which is why a great medical experience is required to diagnose it.
Treatment
No treatment can cure this disease , but it can slow the progression of the disease and minimize symptoms. Therefore, current treatment is based on symptoms and associated complications .
To treat systemic sclerosis, immunosuppressive, anti-inflammatory and corticosteroid medications are used, in addition to the medications necessary to alleviate the different symptoms that arise. But to treat localized scleroderma there is a greater variety. There is evidence that phototherapy with UVB rays is effective for treating superficial skin conditions, and with UVA rays for deeper conditions. Methotrexate and corticosteroids have also been helpful when the disease is severe or rapidly progressing.
Physiotherapy is also sometimes useful to treat or prevent joint contractures, and the use of moisturizing and sunscreen creams to hydrate and protect the affected skin.
References:
Scleroderma Association of Castellón. https://www.scleroderma.es/
Esclerodermia (2020). NIAMS: National Institute of Arthritis and Musculoskeletal and Skin Diseases. https://www.niams.nih.gov/es/informacion-de-salud/esclerodermia
Jimenez, S. A. (2022). Scleroderma Treatment & Management: Approach Considerations, Pruritus, Raynaud Phenomenon. Medscape. https://emedicine.medscape.com/article/331864-treatment#d7
Rheumatologists estimate that there are 13,000 patients with scleroderma in Spain (2021). Spanish Foundation of Rheumatology. https://inforeuma.com/los-reumatologos-estiman-que-en-espana-existen-13-000-patients-with-scleroderma/
Odonwodo, A., Badri, T., & Hariz, A. (2021). Scleroderma. StatPearls. https://www.ncbi.nlm.nih.gov/books/NBK537335/
‌Scleroderma (2019). Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/8979-scleroderma-an-overview
