Systemic scleroderma is a condition that affects a multitude of organs and can therefore lead to the onset of various symptoms. The extent of the symptomatology, prognosis and treatment differ, according to the disease type.

In general, systemic scleroderma exhibits 5 different clinical types:

• dSSC: Diffuse systemic sclerosis is one of the two more common types of systemic scleroderma. Raynaud's phenomenon is observed at least a year before the diagnosis is established and involves changes in the color of the hands' skin, when a patient is in a place with a low temperature. The skin turns initially to white, then blue and red. Pain can also be experienced. Other than that, dSSC is characterized by profound collagen deposition in the thorax and extremities, friction rubs in the tendons, early onset of symptoms related to visceral involvement and regionally hyper- or hypopigmented skin. 30% of the patients are found to have Antibodies against topoisomerase I DNA (Scl 70) [9].  
• lSSc: Limited cutaneous systemic sclerosis is as often diagnosed as dSSc. It typically involves fibrotic skin changes in the extremities, face and lips, as well as cutaneous telangiectasia and dilated capillaries in the nail folds. In contradistinction to dSSc, pulmonary hypertension and visceral involvement are observed in progressed stages. Calcification of the skin is an indicator of tumoral calcinosis and is not seen often.
• Transitory form
• Systemic scleroderma sine scleroderma: A challenging disease in terms of diagnostics, because the skin exhibits no symptomatology and the viscera is solely affected. It is usually diagnosed in post- mortem.
• Malignant scleroderma: Most commonly observed in men and accompanied by high mortality rates.

Skin lesions observed in patients with systemic scleroderma change with the time and follow a definite course: they first appear as red-to-purple edematous lesions, then become hardened and ultimately transform into atrophic lesions.

When internal organs are affected, fluctuating symptomatology is expected because systemic sclerosis can lead to alterations in any organ of the body. Involvement of the gastrointestinal tract may produce dysphagia, nausea and weight loss, diarrhea and cramping; palpitations, shortened breath, weakness and thoracic pain may accompany pulmonary hypertension or cardiopulmonary involvement in general. Pain is a symptom commonly experienced by patients and may occur ulcers, Raynaud's phenomenon and a variety of other causes [10].

• Pain

  Musculoskeletal Joint pain can be either arthralgia or myalgia. The terms arthralgia and myalgia are often used in combination or interchangeably. Arthralgia is defined as pain in a joint whereas myalgia is generalised muscle pain. [sclerodermasociety.co.uk]

  Musculoskeletal disease: pain killers such as paracetamol and aspirin. Heart disease: pain killers for chest pain and steroids if heart failure occurs. [healthengine.com.au]

  We report the case of a 61-year-old woman, who suffered from abdominal pain, nausea, vomiting and fever. She had a past medical history of acute rheumatism, pyelonephritis and systemic scleroderma. [ncbi.nlm.nih.gov]

  Abstract Involvement of the joints in progressive systemic sclerosis was first noted in 1847 by Forget who described a 33-year-old woman whose initial symptoms were pain and swelling of many joints and whose "wrists still bore the traces of leeches and [annals.org]

• Weakness

  Joint pain (arthralgias), muscular pain, weakness, cramps, and destruction of the tips of the fingers or toes (acroosteolysis) are frequent. [rarediseases.info.nih.gov]

  Other signs are symptoms of carpal tunnel syndrome or muscle weakness. [sclerodermasociety.co.uk]

  thickening, and tightening of the skin, usually in your fingers Fingers that get pale, tingly, and numb when you get cold (Raynaud syndrome) Heartburn Trouble swallowing Shortness of breath Aches and pains in your joints Sometimes, muscle pain and weakness [msdmanuals.com]

• Fatigue

  The severity of the scleroderma patient fatigue is not on the same level as a ‘healthy’ person would feel fatigue. [sclerodermanews.com]

  Initial symptoms are non-specific and include fatigue, vague musculoskeletal complaints, diffuse swelling of hands, and Raynaud's phenomenon. Aetiology and pathogenesis are unknown. [bestpractice.bmj.com]

  All patients completed the study and no adverse effects occurred, with the exception of transient muscular fatigue. The exercise program improved the mouth opening of all subjects (mean increase: 10.7+/-2.06 mm, P 0.1). [ncbi.nlm.nih.gov]

  Raynaud’s phenomenon (white, blue and red color changes of the fingers and/or toes upon exposure to cold or stress) is present early in a child with systemic sclerosis, as well as fatigue, joint pain, difficulty swallowing, abdominal pain, heartburn, [my.clevelandclinic.org]

• Weight Loss

  Lastly, substances used to minimize appetite and contribute to weight loss (derivatives of phenylethylamine ) are also believed to trigger systemic sclerosis. [symptoma.com]

  Arthralgias, arthritis, and muscle weakness may occur in as many as a quarter of patients, and a small number may experience dyspnea, weight loss and dysphagia as well. [emedicine.com]

  Those with the diffuse form of the disease may also experience fatigue, depression and loss of appetite leading to malnutrition and weight loss. [livestrong.com]

  Gastrointestinal malabsorption and dysmotility may also be present and are associated with weight loss, vomiting, diarrhea or occlusion. Dry mouth and dental involvement can occur. Arthralgias and acroosteolysis are frequent. [orpha.net]

  It can also lead to tiredness, weight loss and loss of appetite. Cardiac Shortness of breath due to heart problems. [sclerodermasociety.co.uk]

• Anemia

  SRC is characterized by malignant hypertension, hyperreninemia, azotemia, and microangiopathic hemolytic anemia. This complication was almost uniformly fatal but can now be treated successfully in most cases with ACE inhibitors. [ncbi.nlm.nih.gov]

  The following were considered poor prognostic omens: cardiac or renal involvement, significant elevation of the erythrocyte sedimentation rate, and anemia. [ahajournals.org]

  Anemia may be a sign of gastric antral vascular ectasia (watermelon stomach). [aafp.org]

• Dyspnea

  Serial Monitoring and Outcome Measures Measurements were made at baseline and at three-month intervals throughout the study, except those made with the baseline instrument of the Mahler Dyspnea Index, which was replaced by the Mahler transitional dyspnea [doi.org]

  […] characterized by formation of hyalinized and thickened collagenous fibrous tissue, with thickening of the skin and adhesion to underlying tissues (especially of the hands and face), dysphagia due to loss of peristalsis and submucosal fibrosis of the esophagus, dyspnea [medical-dictionary.thefreedictionary.com]

  Dyspnea disappeared and physical activity was quite normal. Octreotide effects on intestinal transit are unclear and may be secondary to immunomodulation or neurotransmission effects. [ncbi.nlm.nih.gov]

  C 7, 8 Treating active interstitial lung disease with oral cyclophosphamide (Cytoxan) for one year modestly improves lung function, dyspnea, skin thickening, and health-related quality of life in patients with systemic sclerosis. [aafp.org]

• Dry Cough

  Snapshot A 45-year-old woman presents to her physician with swollen fingers, joint pains, and a dry cough. She reports that this started a year ago and has not improved. She has a past medical history of vitiligo and primary biliary cholangitis. [step2.medbullets.com]

  Other symptoms of systemic scleroderma include hair loss, calcium deposits under the skin known as calcinosis, small and dilated blood vessels under the skin’s surface called telangiectasias, joint pain, muscle weakness, shortness of breath, dry cough [sclerodermanews.com]

  Other symptoms include: hair loss calcium deposits, or white lumps under the skin small, dilated blood vessels under the skin’s surface joint pain shortness of breath a dry cough diarrhea constipation difficulty swallowing esophageal reflux abdominal [healthline.com]

  Respiratory/lungs Progressive shortness of breath (dyspnea) and pain in the chest wall (precordial chest pain) and a persistent dry cough. Renal Hypertension or the kidneys not working well. [sclerodermasociety.co.uk]

• Exertional Dyspnea

  Lung fibrosis and interstitial lung disease are common and can impair gas exchange, leading to exertional dyspnea and restrictive disease with eventual respiratory failure. Acute alveolitis (potentially responsive to therapy) can develop. [merckmanuals.com]

  Exertional dyspnea and dry cough are the most common presenting symptoms in patients with SSc who develop pulmonary involvement. [omicsonline.org]

  […] high-resolution computed tomography (CT), any ground-glass opacity, the onset of the first symptom of scleroderma other than Raynaud's phenomenon within the previous seven years, an FVC between 45 and 85 percent of the predicted value, 15 and grade 2 exertional [doi.org]

• Dysphagia

  GI disturbances (eg, heartburn, dysphagia) or respiratory complaints (eg, dyspnea) are occasionally the first manifestations. Swelling of the skin is usually symmetric and progresses to induration. [merckmanuals.com]

  […] with other skin lesions. sys·tem·ic scle·ro·sis 1. a systemic disease characterized by formation of hyalinized and thickened collagenous fibrous tissue, with thickening of the skin and adhesion to underlying tissues (especially of the hands and face), dysphagia [medical-dictionary.thefreedictionary.com]

  Extracutaneous organ manifestations are common Arthralgia and myalgia → can result in contractures Gastrointestinal tract Esophageal dysmotility → dysphagia and reflux Small bowel dysmotility → bloating, gas, constipation, and cramping Pulmonary disease [amboss.com]

  Calcinosis, flexion contractures of the fingers, tendon or bursal friction rubs, oesophageal dilatation and dysphagia were not included in the criteria because of its lack in sensitivity and specificity. [arthritisbroadcastnetwork.org]

• Constipation

  We describe a case of a 62-year-old patient with systemic scleroderma and progressive severe constipation that led to stercoral obstruction and perforation. [ncbi.nlm.nih.gov]

  Gastrointestinal Problems Digestive problems can include: Heartburn Trouble swallowing Feeling full as soon as you start eat eating Diarrhea, constipation, and gas. [gleauty.com]

  […] symptoms of systemic scleroderma include hair loss, calcium deposits under the skin known as calcinosis, small and dilated blood vessels under the skin’s surface called telangiectasias, joint pain, muscle weakness, shortness of breath, dry cough, diarrhea, constipation [sclerodermanews.com]

  Extracutaneous organ manifestations are common Arthralgia and myalgia → can result in contractures Gastrointestinal tract Esophageal dysmotility → dysphagia and reflux Small bowel dysmotility → bloating, gas, constipation, and cramping Pulmonary disease [amboss.com]

• Diarrhea

  Raynaud’s phenomenon (white, blue and red color changes of the fingers and/or toes upon exposure to cold or stress) is present early in a child with systemic sclerosis, as well as fatigue, joint pain, difficulty swallowing, abdominal pain, heartburn, diarrhea [my.clevelandclinic.org]

  Gastrointestinal Problems Digestive problems can include: Heartburn Trouble swallowing Feeling full as soon as you start eat eating Diarrhea, constipation, and gas. [gleauty.com]

  Other symptoms of systemic scleroderma include hair loss, calcium deposits under the skin known as calcinosis, small and dilated blood vessels under the skin’s surface called telangiectasias, joint pain, muscle weakness, shortness of breath, dry cough, diarrhea [sclerodermanews.com]

  Gastrointestinal malabsorption and dysmotility may also be present and are associated with weight loss, vomiting, diarrhea or occlusion. Dry mouth and dental involvement can occur. Arthralgias and acroosteolysis are frequent. [orpha.net]

• Nausea

  We report the case of a 61-year-old woman, who suffered from abdominal pain, nausea, vomiting and fever. She had a past medical history of acute rheumatism, pyelonephritis and systemic scleroderma. [ncbi.nlm.nih.gov]

  They can also help relieve symptoms of burning in the swallowing tube or upper belly area, indigestion, stomach upset, and nausea. [rheuminfo.com]

  Dry mouth Dry mouth syndrome Reduced salivation [ more ] 0000217 5%-29% of people have these symptoms Abnormal bowel sounds 0030142 Congestive heart failure Cardiac failure Cardiac failures Heart failure [ more ] 0001635 Hypertensive crisis 0100735 Nausea [rarediseases.info.nih.gov]

  Lee, Nausea and Vomiting Related to Non-esophageal and Non-Gastric Diseases of the Gastrointestinal Tract, Nausea and Vomiting, 10.1007/978-3-319-34076-0_4, (55-68), (2016). A.B. Shreiner and D. [doi.org]

  Involvement of the gastrointestinal tract may produce dysphagia, nausea and weight loss, diarrhea and cramping; palpitations, shortened breath, weakness and thoracic pain may accompany pulmonary hypertension or cardiopulmonary involvement in general. [symptoma.com]

• Vomiting

  We report the case of a 61-year-old woman, who suffered from abdominal pain, nausea, vomiting and fever. She had a past medical history of acute rheumatism, pyelonephritis and systemic scleroderma. [ncbi.nlm.nih.gov]

  […] skin fibrosis beginning on the fingers and face that rapidly becomes generalized; "spider veins" (telangiectasias) on the thorax, face, lips, tongue, and fingers; gastroesophageal reflux ; and difficulty eating ( dysphagia ) along with weight loss, vomiting [rarediseases.info.nih.gov]

  Gastrointestinal malabsorption and dysmotility may also be present and are associated with weight loss, vomiting, diarrhea or occlusion. Dry mouth and dental involvement can occur. Arthralgias and acroosteolysis are frequent. [orpha.net]

  There may be a feeling of bloating when eating and a desire to vomit after eating. Sclerodactyly (SKLER-oh-DAK-till-ee): This means "hardness of the digits." The skin of the fingers is dry, coarse textured or "woody" feeling. [scleroderma.ca]

  Lee, Nausea and Vomiting Related to Non-esophageal and Non-Gastric Diseases of the Gastrointestinal Tract, Nausea and Vomiting, 10.1007/978-3-319-34076-0_4, (55-68), (2016). A.B. Shreiner and D. [doi.org]

• Liver Fibrosis

  liver fibrosis from viruses or toxins, kidney fibrosis from diabetes and other less common kidney diseases, and heart fibrosis that occurs after heart attacks and during heart failure. [sciencedaily.com]

  The colon can be involved, and can cause pseudo-obstruction or ischemic colitis.[5] Rarer complications include pneumatosis cystoides intestinalis, or gas pockets in the bowel wall, wide mouthed diverticula in the colon and esophagus, and liver fibrosis [en.wikipedia.org]

• Microstomia

  These findings suggest that regular application of the proposed exercise program may be useful in the management of microstomia in SSD patients. [ncbi.nlm.nih.gov]

  Developing microstomia due to SSc caused the patient lower self-esteem, depressed mood, and lack of self-acceptance. [prime-journal.com]

  […] fingers Edema and fibrosis with waxy appearance of the skin and limited range of motion Atrophy and necrotic spots Lesions on the proximal nail fold Multiple, painful ischemic digital ulcers Face Loss of expression (mask-like facies) Shortened frenulum Microstomia [amboss.com]

  Secondary language Language: English Title: Sclerodermia and nursing of changed skin Keywords: Raynaud's phenomenon, scleroderma, calcination, microstomia Comments Leave comment You have to log in to leave a comment. [repozitorij.upr.si]

• Xerostomia

  Abstract Scleroderma is a disorder involving oral and facial tissues, with skin hardening, thin lips, deep wrinkles, xerostomia, tongue rigidity, and microstomia. [ncbi.nlm.nih.gov]

  Flexion contracture 0001371 Malabsorption Intestinal malabsorption 0002024 Muscle weakness Muscular weakness 0001324 Osteolysis Breakdown of bone 0002797 Pulmonary fibrosis 0002206 Skin ulcer Open skin sore 0200042 Telangiectasia of the skin 0100585 Xerostomia [rarediseases.info.nih.gov]

  The disease is characterized typically by facial lesions, such as telangiectasia, as well as xerostomia, a beak-shaped nose, reduced aperture of the lips (microcheilia), and limited mouth opening (microstomia). [prime-journal.com]

• Difficulty Opening the Mouth

  Problems with teeth if there is difficulty opening the mouth enough to brush them properly. Reduced saliva production can cause dryness of the mouth. Bleeding from the gut. Blockage (obstruction) of the bowels. Incontinence of the bowels. [patient.info]

  Facial thickening, which can occur with the limited cutaneous and diffuse cutaneous subsets, often leads to difficulty opening the mouth ( Online Figure A2 ). [aafp.org]

• Sore Mouth

  See your dentist if you have mouth sores, mouth pain, or loose teeth. Ask your dentist about special rinses and toothpastes. Learn ways to keep your mouth and face flexible. Keep your mouth moist. You can drink lots of water or suck on ice chips. [gleauty.com]

• Hypertension

  It is often heralded by sudden, severe hypertension with features of thrombotic microangiopathic hemolytic anemia. [merckmanuals.com]

  Epoprostenol and bosentan are approved for therapy of pulmonary hypertension (PAH). Other options under investigation include intravenous or aerolized iloprost. Cyclophosphamide (CYC) pulse therapy is effective in suppressing active alveolitis. [ncbi.nlm.nih.gov]

  Internal organs Routine annual screening for interstitial lung disease and pulmonary artery hypertension should include: Pulmonary function tests Transthoracic echocardiogram ECG The DETECT score is a screening tool for pulmonary artery hypertension that [dermnetnz.org]

  (pulmonary arterial hypertension). 10 Patients with limited cutaneous systemic sclerosis have the greatest risk of pulmonary arterial hypertension. 10 Risk factors for severe pulmonary arterial hypertension include limited cutaneous subset, older age, [aafp.org]

• Heart Failure

  Diastolic heart failure with preserved left ventricular ejection fraction Diuretics, including spironolactone and furosemide (IV, D). [academic.oup.com]

  failure Cardiac failure Cardiac failures Heart failure [ more ] 0001635 Hypertensive crisis 0100735 Nausea and vomiting 0002017 Pulmonary arterial hypertension Increased blood pressure in blood vessels of lungs 0002092 Renal insufficiency Renal failure [rarediseases.info.nih.gov]

  failure due to dilated cardiomyopathy, likely related to pulmonary hypertension and myocardial fibrosis. [emedicine.com]

  Heart failure may be intractable. Ventricular ectopy, even if asymptomatic, increases the risk of sudden death. [merckmanuals.com]

  […] fibrosis that occurs after heart attacks and during heart failure. [sciencedaily.com]

• Blurred Vision

  Side effects of nitrates include headaches, dizziness, nausea, blurred vision, fast heartbeat, and sweating. Lying down with the legs elevated can relieve low blood pressure and dizziness. [pennstatehershey.adam.com]

• Arthralgia

  The Raynaud phenomenon, swelling of the extremities, and diffuse arthralgias often precede the onset... FULL TEXT [doi.org]

  Musculoskeletal Joint pain can be either arthralgia or myalgia. The terms arthralgia and myalgia are often used in combination or interchangeably. Arthralgia is defined as pain in a joint whereas myalgia is generalised muscle pain. [sclerodermasociety.co.uk]

  Patients will present with fatigue, arthralgia, myalgia, pain, and skin discoloration. The skin involvement is always present in SSc with variable extent and severity of skin thickening and hardening. [aocd.org]

• Myopathy

  […] due to scleroderma Myopathy due to systemic sclerosis Polyneuropathy due to systemic sclerosis Progressive systemic sclerosis Scleredema Scleredema buschkes Scleroderma Scleroderma induced by chemical, including drugs Scleroderma of lung Scleroderma [icd9data.com]

  MRI findings were compatible with myopathy or myositis in 14 (78 %) patients, tenosynovitis in 11 (61 %) patients and enthesitis in 10 (56 %) patients. Typically, these manifestations were distributed symmetrically and mostly generalised. [ncbi.nlm.nih.gov]

  […] sclerosis [scleroderma] M34.0 Progressive systemic sclerosis M34.1 CR(E)ST syndrome M34.2 Systemic sclerosis induced by drug and chemical M34.8 Other forms of systemic sclerosis M34.81 Systemic sclerosis with lung involvement M34.82 Systemic sclerosis with myopathy [icd10data.com]

  Mimura Y, Ihn H, Jinnin M (2005) Clinical and laboratory features of scleroderma patients developing skeletal myopathy. Clin Rheumatol 24(2):99–102 PubMed CrossRef Google Scholar 20. [link.springer.com]

• Myalgia

  Musculoskeletal Joint pain can be either arthralgia or myalgia. The terms arthralgia and myalgia are often used in combination or interchangeably. Arthralgia is defined as pain in a joint whereas myalgia is generalised muscle pain. [sclerodermasociety.co.uk]

  Patients will present with fatigue, arthralgia, myalgia, pain, and skin discoloration. The skin involvement is always present in SSc with variable extent and severity of skin thickening and hardening. [aocd.org]

  Extracutaneous organ manifestations are common Arthralgia and myalgia → can result in contractures Gastrointestinal tract Esophageal dysmotility → dysphagia and reflux Small bowel dysmotility → bloating, gas, constipation, and cramping Pulmonary disease [amboss.com]

• Joint Stiffness

  stiffness/pain Limited cutaneous systemic sclerosis In 90% of cases, Raynaud's phenomenon precedes the onset of other symptoms. [amboss.com]

  Stiff, Painful Joints Stiffness and pain come from hard skin around joints and joint swelling. To help, you can: Do stretching exercises that help with joint motion. Exercise regularly (swimming is best). Take medicine to help ease pain or swelling. [gleauty.com]

  Physical activity keeps skin and joints flexible, improves circulation and relieves joint stiffness. Don’t smoke. Smoking worsens Raynaud’s and lung disease. Manage heartburn. Avoid foods that cause heartburn and eating late at night. [arthritis.org]

  SLIDESHOW Arthritis: Causes and Treatment for Joint Stiffness and Pain See Slideshow How do health care professionals classify scleroderma? Scleroderma can be classified in terms of the degree and location of the skin and organ involvement. [medicinenet.com]

• Swelling of Hand

  Initial symptoms are non-specific and include fatigue, vague musculoskeletal complaints, diffuse swelling of hands, and Raynaud's phenomenon. Aetiology and pathogenesis are unknown. [bestpractice.bmj.com]

• Ulcer

  […] healing of existing digital ulcers and preventing formation of new ulcers. [doi.org]

  Under this medication clinical improvement was observed in 4 patients with partial regression of cutaneous sclerosis and inflammation, healing of fingertip ulcerations or leg ulcers and improvement of articular mobility. [ncbi.nlm.nih.gov]

  Ulcer prevention Emollients Avoid smoking, cold (double lined gloves), trauma Ulcer treatment Localised dressings ; protect and keep moist areas of impending ulceration and ulcerated areas Systemic vasodilators Surgery Amputation Botulinum toxin injections [dermnetnz.org]

  Pain symptoms are common in patients with systemic sclerosis and are independently associated with more frequent episodes of Raynaud phenomenon, active ulcers, and worsening synovitis. [medlink.com]

• Localized Scleroderma

  Atrophy of orbital fat is a reported complication of localized scleroderma but not of systemic scleroderma. Here we present a case of systemic scleroderma with unilateral enophthalmos. [ncbi.nlm.nih.gov]

  Localized Scleroderma Localized types of scleroderma affect the skin and related tissues, and sometimes the muscle below. Internal organs are not affected. Localized scleroderma can never progress to the systemic type of the disease. [verywellhealth.com]

  Localized Scleroderma The changes, which occur in localized scleroderma, are usually found in only a few places on the skin or muscles, and rarely spread elsewhere. Generally, localized scleroderma is relatively mild. [scleroderma.org]

• Calcinosis Cutis

  We describe 2 patients with systemic sclerosis who have multiple umbilicated nodules indistinguishable from calcinosis cutis. [ncbi.nlm.nih.gov]

  Pruritus and edema in the early stages are evident, sclerodactyly, digital ulcers, pitting at the fingertips, telangiectasia and calcinosis cutis are all features of systemic sclerosis. [aocd.org]

  Limited SSc is often associated with symptoms of CREST syndrome (calcinosis cutis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) and may be followed by internal organ involvement as the disease progresses. [amboss.com]

  The constellation of calcinosis cutis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia, seen in some lcSSc patients, is termed the CREST syndrome. [accessmedicine.mhmedical.com]

• Hyperpigmentation

  […] older patients, and in unexposed portions of the female group without hyperpigmentation. [ncbi.nlm.nih.gov]

  […] anticentromere antibody-positive Cutaneous changes In the majority of cases cutaneous changes arise before systemic involvement The hands and face are the most frequently involved sites, although cutaneous changes can be widespread and 50 % of cases have hyperpigmentation [pcds.org.uk]

  […] were common among the African Americans compared to the Hispanics and whites. [12] It was also noticed that similar higher pigmentary disturbances were found in the Iraqi patients. [13] The most common pigmentary disturbance in our study was diffuse hyperpigmentation [dx.doi.org]

  (see image below) In systemic sclerosis, skin hyperpigmentation of the lower legs is surrounded by areas of hypopigmentation. [emedicine.medscape.com]

• Skin Lesion

  We report on a 56-year-old female patient who participated in a prospective, double-blind, multicentre comparative pilot study because of her severe Raynaud symptoms, with dystrophic skin lesions on both hands. [ncbi.nlm.nih.gov]

  lesions. sys·tem·ic scle·ro·sis 1. a systemic disease characterized by formation of hyalinized and thickened collagenous fibrous tissue, with thickening of the skin and adhesion to underlying tissues (especially of the hands and face), dysphagia due [medical-dictionary.thefreedictionary.com]

  Skin lesions observed in patients with systemic scleroderma change with the time and follow a definite course: they first appear as red-to-purple edematous lesions, then become hardened and ultimately transform into atrophic lesions. [symptoma.com]

• Beaked Nose

  Face Matt telangiectases on face, chest, palms Peri-oral furrowing (fat loss) Microstomia (limited oral aperture defined as interlabial distance < 4.5 cm) Beaked nose Other Calcinosis affecting digits, extensor surfaces of limbs. [dermnetnz.org]

• Mask-like Facies

  Sclerodactyly Red-blue discoloration of the fingers Edema and fibrosis with waxy appearance of the skin and limited range of motion Atrophy and necrotic spots Lesions on the proximal nail fold Multiple, painful ischemic digital ulcers Face Loss of expression (mask-like [amboss.com]

• Thin Lips

  Abstract Scleroderma is a disorder involving oral and facial tissues, with skin hardening, thin lips, deep wrinkles, xerostomia, tongue rigidity, and microstomia. [ncbi.nlm.nih.gov]

• Kidney Failure

  Heart failure Scarring of the lungs, called pulmonary fibrosis High blood pressure in the lungs (pulmonary hypertension) Kidney failure (scleroderma renal crisis) Problems absorbing nutrients from food Cancer Call your provider if you develop Raynaud [nlm.nih.gov]

  Heart failure Scarring of the lungs, called pulmonary fibrosis High blood pressure in the lungs (pulmonary hypertension) Kidney failure (scleroderma renal crisis) Problems absorbing nutrients from food Cancer When to Contact a Medical Professional Call [ufhealth.org]

• Dyspareunia

  Difficult or painful sexual intercourse (dyspareunia). Respiratory/lungs Progressive shortness of breath (dyspnea) and pain in the chest wall (precordial chest pain) and a persistent dry cough. Renal Hypertension or the kidneys not working well. [sclerodermasociety.co.uk]

  0100958 Oliguria 0100520 Pulmonary infiltrates Lung infiltrates 0002113 30%-79% of people have these symptoms Arthralgia Joint pain 0002829 Arthritis Joint inflammation 0001369 Carious teeth Dental cavities Tooth cavities Tooth decay [ more ] 0000670 Dyspareunia [rarediseases.info.nih.gov]

  […] stomach) Anemia Gastrointestinal bleeding Gastroesophageal reflux disease Chronic cough Dental erosions Dysphagia Halitosis Pharyngitis Intestinal malabsorption Wasting, diarrhea Pseudo-obstruction Obstructive symptoms Genitourinary Sexual dysfunction Dyspareunia [aafp.org]

• Headache

  Migraine headache Migraine headaches [ more ] 0002076 Narrow mouth Small mouth 0000160 Osteolysis Breakdown of bone 0002797 Osteomyelitis Bone infection 0002754 Peripheral neuropathy 0009830 Pulmonary arterial hypertension Increased blood pressure in [rarediseases.info.nih.gov]

  TMD symptoms (muscle pain on chewing, difficulty in mouth opening, headaches) were complained by 92.5% of SSc patients and by 76.2% of controls (χ² = 8.012 p = 0.005). [ncbi.nlm.nih.gov]

  Headaches, depression, and anxiety. It can also lead to tiredness, weight loss and loss of appetite. Cardiac Shortness of breath due to heart problems. [sclerodermasociety.co.uk]

  Patients with SRC may exhibit headaches, hypertensive retinopathy associated with visual disturbances and encephalopathy, seizures, fever and general malaise. [doi.org]

• Seizure

  […] sensory disturbance. tuberous sclerosis a congenital heredofamilial disease, transmitted as an autosomal dominant trait, characterized principally by the presence of hamartomas of the brain ( tubers ), retina ( phakomas ), and viscera, mental retardation, seizures [medical-dictionary.thefreedictionary.com]

  Seizure 0001250 Tendon rupture Rupture of tendons Ruptured tendon [ more ] 0100550 Tetralogy of Fallot with atrioventricular canal defect 0011677 Percent of people who have these symptoms is not available through HPO Abnormality of abdomen morphology [rarediseases.info.nih.gov]

  Plus, Thomas has seizures and he trips – not the upper body weakness of the disease. [blogs.plos.org]

  Symptoms include headache, vision problems, seizures, breathlessness, swelling of the legs and feet, and reduced urine production. Heart arrhythmias, or abnormal heartbeats and congestive heart failure may result from scarring of heart tissue. [medicalnewstoday.com]

  […] reducing suicide attempts January 29, 2019 Ted Bosworth Ted Bosworth January 29, 2019 January 29, 2019 Precision medicine in rheumatology: Enormous opportunity exists January 29, 2019 Sharon Worcester Sharon Worcester January 29, 2019 January 22, 2019 How seizure [mdedge.com]

• Stroke

  Goodman, MD, et al December 3, 2018 September 27, 2018 Stroke Increases the Risk of All-Cause Dementia September 27, 2018 September 27, 2018 September 25, 2018 Utilization of Primary Care Physicians by Medical Residents: A Survey-Based Study September [mdedge.com]

  Due to reduced blood flow, the skin may be frail and cracked, and strokes must be adjusted accordingly. The therapist should be on the lookout for atrophy and ulceration of the skin. [massagetherapy.com]

  Patients may experience severe headaches, stroke, or seizure if this happens, or they may be asymptomatic. [hss.edu]

  Symptoms include headache, fatigue, and in severe cases, stroke. Blood pressure monitoring and control is essential. Inflammation of the lungs in scleroderma can cause scarring, resulting in shortness of breath, especially with physical exertion. [medicinenet.com]

• Peripheral Neuropathy

  neuropathy 0009830 Pulmonary arterial hypertension Increased blood pressure in blood vessels of lungs 0002092 Seizures Seizure 0001250 Tendon rupture Rupture of tendons Ruptured tendon [ more ] 0100550 Tetralogy of Fallot with atrioventricular canal [rarediseases.info.nih.gov]

  neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830 50 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635 UMLS symptoms related to Systemic Scleroderma: pruritus, exanthema, hidebound skin MGI Mouse Phenotypes [malacards.org]

  Peripheral neuropathy: a complication of systemic sclerosis. Clin Rheumatol. 2013 Jun. 32(6):885-8. [Medline]. Tyndall A, Fistarol S. The differential diagnosis of systemic sclerosis. Curr Opin Rheumatol. 2013 Nov. 25(6):692-9. [Medline]. [emedicine.com]

• Paresthesia

  Morbidity from the disease is seen in most patients in the form of fibrosis of the skin, which may lead to contractures and loss of mobility, and Raynaud phenomenon with associated pain and paresthesias, as well as digital ulcers. [emedicine.com]

  Pins and needles sensation (paresthesias) and weakness in the hand. Headaches, depression, and anxiety. It can also lead to tiredness, weight loss and loss of appetite. Cardiac Shortness of breath due to heart problems. [sclerodermasociety.co.uk]

Diagnosis depends on the clinical examination and further laboratory tests and imaging techniques.

Laboratory tests may reveal low platelet levels, an elevated erythrocyte sedimentation rate (ESR), microangiopathic hemolytic anemia, elevated c-reactive protein levels (non-specific marker of inflammation) and hypergammaglobulinemia. Creatine phosphokinase levels may also be elevated in cases of affected muscles.

As far as imaging techniques are concerned, they reveal selective findings, according to the affected area. Collagen deposits on the basal pulmonary regions are depicted via plain radiograph in up to 59% of the patients. High-resolution computed tomography (HRCT) or scintigraphy may also help to detect sclerosed alveolar walls. Esophageal manometry can be applied in patients who report a compatible symptomatology; Doppler echocardiography, an electrocardiogram (ECG) and a 24-hour Holter monitoring are excellent tools to evaluate the involvement of the heart, even in patients who have not yet experienced any heart-related symptomatology [11].

A bronchoalveolar lavage (BAL) can be used to detect white blood cells in the alveoli, as well as increased granulocytes. Pulmonary function tests can also be performed to assess the efficacy of ventilation and perfusion capacity of the lungs.

• Pericardial Effusion

  Anemia preceded allograft SRC in two cases, pericardial effusion in one, and skin tightening in two others. [doi.org]

  Cardiac involvement in systemic sclerosis includes myocardial disease, conduction system defects, arrhythmias, or pericardial disease. [aafp.org]

  Thinning of the left ventricular myocardium was found in 29% of the patients and pericardial effusion and systolic and diastolic ventricular dysfunction were also common. [rheumatology.oxfordjournals.org]

  Pericarditis or pericardial effusion ; these may cause cardiac impairment or congestive cardiac failure. Arrhythmias and conduction defects (including bradyarrhythmias and tachyarrhythmias). Endocarditis. [patient.co.uk]

• Esophageal Motility Disorder

  Murthy, SECONDARY ESOPHAGEAL MOTOR DISORDERS, Pearson's Thoracic and Esophageal Surgery, 10.1016/B978-0-443-06861-4.50218-5, (725-730), (2008). Ellen C. [doi.org]

  Esophageal motility dysfunction. The esophagus carries food from the mouth to the stomach. In esophageal motility dysfunction, the muscles in the esophagus become scarred by scleroderma and do not contract normally. [pennstatehershey.adam.com]

• Microalbuminuria

  Reduced renal functional reserve - proteinuria, microalbuminuria or reduced glomerular filtration rate (GFR). Scleroderma renal crisis. [patient.co.uk]

• Myocardial Fibrosis

  […] of the esophagus, dyspnea due to pulmonary fibrosis, myocardial fibrosis, and renal vascular changes resembling those of malignant hypertension; Raynaud phenomenon, atrophy of the soft tissues, and osteoporosis of the distal phalanges (acrosclerosis) [medical-dictionary.thefreedictionary.com]

  […] systemic sclerosis is heart failure due to dilated cardiomyopathy, likely related to pulmonary hypertension and myocardial fibrosis. [emedicine.com]

  Abnormalities in myocardial tissue Myocardial fibrosis is a hallmark cardiac manifestation of SSc that can remain subclinical for a considerable period of time [ 7 ]. [rheumatology.oxfordjournals.org]

  Interstitial and peribronchial fibrosis or intimal hyperplasia of small pulmonary arteries can develop; if long-standing, pulmonary hypertension can result. Diffuse myocardial fibrosis or cardiac conduction abnormalities occur. [merckmanuals.com]

  It is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The fibrosis is caused by the body's production of too much collagen, which normally strengthens and supports connective tissues. [rarediseases.info.nih.gov]

Systemic scleroderma cannot be cured, since its etiology remains unknown. Therapeutic approaches aim at minimizing symptoms and possibly hindering the rapid progression of the disease and are always individualized.

Characteristic skin lesions can be treated with UVA-1 phototherapy or Psolaren UV-A therapy (PUVA). Alternative treatments include local emollients to soften the skin, camphor and menthol.

Because of the definitive immunologic dysregulation, various immunomodulating drugs have been proposed to treat the disease. The list is extensive and includes methotrexate, corticosteroids, chlorambucil, cyclosporine, FK506 (otherwise known as tacrolimus) and thalidomide. Photophoresis, statins and cyclophosphamide have also been used, in addition to imatinib and nintedanib [12]; the latter two have been used due to their ability to reverse the fibrotic procedure.

Additional treatment schemes are applied, depending on the affected organs. Raynaud's phenomenon is treated with prevention of exposure to cold, wearing gloves in the winter and avoidance of smoking. Calcium channel blockers, IV prostaglandin and aspirin have also been used [13]. Should the gastrointestinal tract be affected too, proton pump inhibitors and histamine blockers are the recommended treatment. Lung involvement can be treated with calcium channel blockers as well, in addition to prostaglandins, cyclophosphamide and corticosteroids.

Patients diagnosed with systemic scleroderma can be categorized under two wide categories: diffuse systemic sclerosis (dSSc) and limited cutaneous systemic sclerosis (lSSc). The latter involves a clinical picture with profound cutaneous symptomatology and only late involvement of the internal organs; therefore, the prognosis is more favorable when compared to dSSc, which encompasses symptoms from various organs.

DSSc patients experience severe symptomatology, such as pulmonary hypertension, which was observed in 1/4 of the senior patients as opposed to 1/10 younger patients, in a related study [8]. Pulmonary hypertension increases mortality, especially in smokers.

As is the case in all autoimmune disorders, a proven cause of systemic scleroderma has yet to be established. Nevertheless, various stimuli, environmental or not, are known to trigger the onset of the condition. 

Silicone, in the form of implants for various aesthetic purposes or injections, is a substance known to trigger autoimmune disorders, including systemic scleroderma [3]. Patients who are affected by such disorders are usually discouraged from undergoing any type of invasive procedure involving the use of silicone. Organic solvents, pesticides and epoxy resin have also been incriminated. Medications such as carbidopa, bleomycin, panicillamine and cocaine are also believed to be involved in some pathogenetic stage of the disease and a restricted type of systemic sclerosis has also been described in cancer patients treated with paclitaxel [4]. Lastly, substances used to minimize appetite and contribute to weight loss (derivatives of phenylethylamine ) are also believed to trigger systemic sclerosis.

Epidemiologic data vary according to each country; the highest prevalence has been observed in the USA, secondarily to European and Asian countries [5]. The United States, it has been estimated that approximately 20 new patients per million adults are diagnosed with the disease annually. A definite predilection exists for female individuals, who are affected 5 times more often than male patients. Cases of systemic scleroderma diagnosed in children are scarce and most of the patients first exhibit symptoms around the age of 50 years old [6]. 

The characteristic features of systemic scleroderma include fibrosis of the skin and viscera. Even though the accurate cause remains unknown, it is believed that alterations of the endothelial consistency lead to an autoimmune response and the stimulation of mast cells, macrophages, fibroblasts and other cellular components involved in the immunologic process. Cytokines and enzymes are believed to be activated afterwards, which inadvertently cause alterations of the extracellular matrix (all types of collagen, fibronectin etc). Overproduction of collagen and its deposition on the skin and organs is the ultimate product of the aforementioned procedure. Collagen deposition is believed to be a direct result of the activation of transforming growth factor-beta (TGF-beta) or interleukin-4 (IL-4), while various other molecular substances have also been incriminated [7].

Another essential alteration caused by systemic scleroderma involves the destruction of small vessels: TGF-beta and platelet-derived growth factor (PDGF) probably mediate this process as well. Generally, systemic scleroderma is an autoimmune disease, and various autoantibodies are responsible for the profound infiltration of the skin and viscera by t and B cells and other components. it has also been proposed that human leukocyte antigens also play a role in the disease's pathogenesis, although their part remains obscure and unconfirmed. Another theoretical suggestion incriminated cellular apoptosis and the production of free radicals as potential culprits.

Systemic scleroderma cannot be prevented.

Systemic scleroderma is otherwise referred to as systemic sclerosis and is classified under the broader category of connective tissue disorders. It causes cutaneous and visceral collagen infiltration and leads to the destruction of the small vessels. It is a chronic disease, which most often begins with symptomatology related to the skin. Typical symptoms that accompany systemic scleroderma are the Raynaud's phenomenon and regionally thickened skin [1].

A given predilection has been observed for women in their middle age and Raynaud's phenomenon usually precedes the onset of systemic scleroderma. Internal organs most commonly affected include the lungs, kidneys, heart and digestive tract, which produce multiple organ-related symptoms. Systemic scleroderma is an autoimmune disease and minimum visceral involvement at the time of diagnosis is the best and only prognostic factor. Physicians from different medical specialties are required in order to efficiently monitor a patient affected by the disease and treatment options are available with an aim to minimize symptoms. Various drugs are available to improve the outcome, such as endothelin-1 receptor blockers, calcium channel blockers and lifestyle modifications [2]. Despite the plethora of medications and recommendations, treatment remains supportive.  

Systemic sclerosis is an autoimmune disease with an unknown cause. It primarily causes lesions of the skin that progressively become hardened and affects various internal organs as well, such as the heart, kidneys and lungs.

Various factors are believed to trigger the disease; they do not, however, cause the disease. Pesticides, organic chemicals and silicon products used in cosmetic procedures are believed to act as triggers. Women are more often affected by the disease than men and the average age of onset is the age of 50 years old.

Symptoms vary depending on the condition's extent and type. Skin lesions originally appear as red and swollen alterations, progress to become hardened and in the end, atrophic. The lungs and heart are also affected: a person may experience shortness of breath, weakness, fatigue and have a cough without the production of sputum. Raynaud's phenomenon is almost always present and is usually observed before the rest of the symptoms. the hands of the patients become white, then blue and eventually red in cold surroundings and may also be painful. Patients may also experience a difficulty to swallow, a symptom closely related to the gastrointestinal tract.

There is generally no cure for systemic scleroderma; treatment options are available to slow the disease down and reduce the symptoms. Local creams can be applied on the lesions, along with UVA-1 therapy (light therapy) and drugs that change the organism's immunologic response are also available. Various medications are also used to treat symptoms related to each system separately, such as the lungs, heart, kidneys and gastrointestinal tract. 

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4. Kawakami T, Tsutsumi Y, Soma Y. Limited cutaneous systemic sclerosis induced by paclitaxel in a patient with breast cancer. Arch Dermatol. 2009 Jan; 145(1):97-8.

5. Mayes MD, Reveille JD. Epidemiology, demographics, and genetics. In: Clements P, Furst D, ed. Systemic sclerosis, 2nd ed. Philadelphia, PA: Lippincott Williams & Wilkins. 2004; 89-93.

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9. Jarzabek-Chorzelska M, Blaszczyk M, et al. Scl 70 antibody--a specific marker of systemic sclerosis. Br J Dermatol. 1986 Oct; 115(4):393-401.
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12. Varai G, Earle L, Jimenez SA, Steiner RM, et al. A pilot study of intermittent intravenous cyclophosphamide for the treatment of systemic sclerosis associated lung disease. J Rheumatol. 1998 Jul; 25(7):1325-9.
13. Wigley FM, Korn JH, Csuka ME, et al. Oral iloprost treatment in patients with Raynaud's phenomenon secondary to systemic sclerosis: a multicenter, placebo-controlled, double-blind study. Arthritis Rheum. 1998 Apr; 41(4):670-7.