Scleroderma involves multiple systems. Limited cutaneous systemic sclerosis was earlier described as the CREST syndrome which included calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly and telangiectasis.
Scleroderma leads to tightening and hardening of the skin with beaklike facial feature and lack of wrinkles. It also leads to digital ulceration, loss of skin creases and contractures. Hypopigmented or hyperpigmented patches are seen on the skin.
It affects the vascular system and Raynaud’s phenomenon is seen as the first presenting symptom. Other symptoms include healed pitting ulcers in the fingers tips and telangiectasis. It also affects the gastrointestinal system and causes gastroesophageal reflux.
Respiratory affections are presented in the form of increasing dyspnea, pulmonary hypertension leading to chest pain and dry persistent cough suggestive of restricted lung disease. It also causes weakness and pains in the joints and muscles with contractures which restricts the range of movement of the joints .
It also causes renal complaints like renal hypertension, renal crisis or renal insufficiency. Neurologic affections include facial pain and reduced sensations due to trigeminal neuralgia. One can suffer from carpel tunnel sensory neuropathy causing paresthesia and weakness of the hand.
Patients with diffuse systemic sclerosis may suffer from oropharyngeal and oesophageal cancers   .
Classical scleroderma manifests as thickening of the skin, Raynaud’s phenomenon, changes in nail-fold capillaries and anti-nuclear antibodies with a speckled or centromere pattern and nucleolar pattern which though uncommon are specific for scleroderma.
Atypical scleroderma may show any of the above changes without any skin symptoms or only with finger swelling.
Pulmonary function test helps detect early fibrotic changes, alveolitis and pulmonary hypertension. Active lung inflammation can be assessed by bronchoscopy with bronchoalveolar lavage.
HRCT scan is performed to check pulmonary involvement.
Extremity radiography might reveal calcinosis and/or resorption of the distal tufts of fingers and toes.
Echocardiography evaluates pulmonary artery pressure and checks for septal fibrosis or pericardial effusions. If the pulmonary artery pressure is high, then right-heart catheterization is performed to diagnose pulmonary hypertension.
Arrythmias and conduction defects are detected by performing 24-hour ambulatory Holter monitoring.
The gastrointestinal system is evaluated by performing esophago-gastro-duodenoscopy, esophageal manometry and pH monitoring studies.
There is no cure for scleroderma because as of now there is no technique to stop collagen overproduction. One can obtain some measure of relief by various treatments.
Numerous experimental drugs or interventions like interferon-gamma, cyclophosphamide, mycophenolate mofetil, D-penicillamine, photopheresis, allogeneic bone marrow transplantation  are used to treat skin thickening. Proteinuria is commonly seen in patients who are receiving D-penicillamine as treatment for scleroderma.
Digital ulcers are treated with phosphodieterase 5 inhibitors or iloprost or with bosentan. Sildenafil is effective and well tolerated by patients with primary Raynaud’s phenomenon and it is also approved to treat pulmonary hypertension  . Endothelin receptor antagonists, phosphodiesterase 5 inhibitors and prostanoids are used to treat pulmonary arterial hypertension.
Gatrointestinal symptoms are treated with H2 blockers, proton pump inhibitors, reflux and aspiration precautions, octreotide, prokinetic agents, and laxatives. Patients are advised to take smaller meals.
Angiotensin converting enzyme (ACE) inhibitors and angiotensin II receptor antagonist are used for treating renal diseases.
Immunosuppressants used in the treatment like cyclophosphamide, azathioprine, mycophenolate, methotrexate, intravenous immunoglobulin, sirolimus, alefacept, rituximab, and tyrosine kinase inhibitors like imatinib, dasatinib and nilotinib.
Pruritus can be managed with moisturizers, tricyclic antidepressants (TCAs), histamine 1 (H1) and histamine 2 (H2) blockers, and trazodone.
In patients with scleroderma, the 5 year survival rate is about 85% while the 10 year survival rate is about 70% . Patients with limited affections will have an approximate 60–70% of 10 year survival rate. In patients with widespread affections, the 10 year survival rate reduces to about 20%. The prognosis is not favourable in patients who are younger at age or suffer from anemia or have a high erythrocyte sedimentation rate (ESR). In cases where there is rapid progress of the disease or widespread extent, the prognosis is not favorable.
Patients with scleroderma can experience complications like pulmonary hypertension, pulmonary fibrosis or renal crisis which can be fatal . Cancer of lungs, liver or bladder and cardiovascular diseases are commonly seen among those suffering from scleroderma     .
The exact cause of scleroderma is not known . It is considered as an autoimmune disorder . Studies suggest the role of genetic and environmental factors in causing scleroderma. Certain mutations in the HLA gene are said to be related to scleroderma  . Environmental factors like silica, aromatic and chlorinated solvents, benzene, ketones, epoxy resins, radiations are factors known to contribute to increasing scleroderma     .
Certain pathologic mechanisms like fibroblast activation, cellular and humoral immunologic derangement and endothelial cell injury are involved. Drugs like bleomycin and pentazocine may contribute to scleroderma.
Scleroderma is found to affect women more than men, the ratio being 4 to 9: 1 . It manifests mainly between the age group of 20 to 50 years, though it can affect any age group. Asians are less affected comparatively   .
The incidence is about 10 times higher among African Americans as compared to Native Americans. In the United States, the incidence is 19 cases per million population annually, and the prevalence is approximately 240 cases per million population.
Scleroderma affects many organ systems but mainly the skin, the gastrointestinal tract, respiratory, cardiovascular, renal and genitourinary systems and the vasculature. The pathophysiology of scleroderma involves alterations at the level of vasculature like endothelial cell damage and apoptosis causing vascular leakiness presenting initially as tissue oedema.
Anti-endothelin cell antibodies cause impaired angiogenesis and impaired vasculogenesis which increases the vascular damage.
Cytokines and growth factors help generate myofibroblasts from fibroblasts. Studies of patients with scleroderma show presence of dysregulated transforming growth factor β in fibroblasts and myo-fibroblasts. These lead to increased collagen and other protein deposition causing fibrosis. Extracellular matrix production is increased by IL-6 and TGF-β produced by B cells. Endothelin signalling has also been implicated in the pathophysiology of the fibrosis .
Patients suffering from scleroderma are advised to maintain the core body temperature to minimize chances of Raynaud’s phenomenon. They must avoid large doses of vitamin C as it accelerates collagen formations and deposition. Skin wounds caused by ischemic lesions or calcinosis must be protected from contamination.
In order to avoid contractures or minimise them, one must undergo regular physiotherapy. Nicotine worsens scleroderma and hence, patients must stop smoking. Patients must avoid exposure to cold weather to prevent any circulatory problems. In cases of gastrointestinal tract symptoms, one must eat small but frequent meals.
Scleroderma is a word of Greek origin. ‘Skleros’ means hard or indurated and ‘derma’ means skin. It was originally defined by Hippocrates as thickened skin . In 1945, Robert Goetz described it as progressive systemic sclerosis to indicate its systemic affections and defined it as a gradually progressing disease.
Scleroderma or systemic sclerosis is characterized by skin induration and thickening along with tissue fibrosis and chronic inflammatory penetration in various visceral organs, fibro-proliferative vasculopathy, and humoral and cellular immune alterations.
Systemic sclerosis is a multi-organ, chronic disease that affects almost all systems. It mainly affects the skin causing tightening and hardening of the skin. It also involves the gastrointestinal tract, the respiratory system, kidneys, the heart, genitourinary systems and the vasculature. It also causes pain, swelling and contractures of the musculoskeletal system.
It is supposed to be an autoimmune disorder where one’s own immune system harms the tissues of the body. Genetic and environmental factors are also considered to play a role in the same.
For patients with minimal spread, the 10-year survival rates are 60-70% and for those with widespread disease, the 10-year survival rates are only 20%.
At the level of the skin, it causes fingers to turn blue or white in cold temperature called as Raynaud’s phenomenon, thickening and hardening of the skin, ulcers on the tips of fingers and toes and facial mask-like look. It causes joint pains, stiffness, weakness of muscles, and contractures. It also affects the lungs causing breathlessness and high blood pressure in the lungs. In the gastric system it causes acid reflux, constipation or diarrhoea. It can lead to kidney damage and failure. It also causes affections of the nervous system.
There is no specific treatment. Treatment is aimed at controlling the symptoms and preventing further complications. Medicines normally used are immunosuppressants, corticosteroids, NSAIDs, Antacids, Anti-hypertensives etc. Surgeries may be required for contractures. Patients must avoid smoking as nicotine worsens scleroderma. To avoid raynaud’s phenomenon one must avoid exposure to cold. Wounds or injuries must be protected from contamination.