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Systemic Scleroderma

Systemic sclerosis

Systemic scleroderma is a connective tissue disorder, which affects the skin, vessels and organs such as the heart, digestive tract or lungs.

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Presentation

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].

Raynaud Phenomenon
  • Raynaud phenomenon and scleroderma (hardening of the skin) are hallmarks of the disease. The typical patient is a young or middle-age woman with a history of Raynaud phenomenon who presents with skin induration and internal organ dysfunction.[ncbi.nlm.nih.gov]
  • Limited systemic sclerosis is typically preceded by Raynaud's phenomenon, involves cutaneous sclerosis distal to the elbows, with gastrointestinal and pulmonary fibrosis, and anticentromere antibody positivity.[ncbi.nlm.nih.gov]
  • Nifedipine is a Ca( )-channel antagonist that has been used for a long time in Raynaud's phenomenon treatment.[ncbi.nlm.nih.gov]
  • An early dinical symptom in scleroderma patients is Raynaud's phenomenon. Later cutaneous manifestations of the disease include oedematous swelling in the extremities and in more extreme cases often very painful, refractory acral necroses.[ncbi.nlm.nih.gov]
  • Simultaneously, the level of asialofetuin-sialyltransferase activity in blood plasma of three groups of patients--those with SSd, Raynaud's phenomenon, and with localized scleroderma--was investigated.[ncbi.nlm.nih.gov]
Pain
  • 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]
  • Although 1 patient with bypass had early graft occlusion (with subsequent below-knee amputation), the other 5 patients with patent grafts quickly achieved pain relief and initial wound healing.[ncbi.nlm.nih.gov]
  • They are painful and lead to significant morbidity and altered hand function within this patient population.[ncbi.nlm.nih.gov]
  • Vitamin D levels were correlated with the severity of joint pain, with immunological status and with BMD in lumbar spine and femoral neck (P 0.01).[ncbi.nlm.nih.gov]
  • Later cutaneous manifestations of the disease include oedematous swelling in the extremities and in more extreme cases often very painful, refractory acral necroses.[ncbi.nlm.nih.gov]
Fatigue
  • The severity of the scleroderma patient fatigue is not on the same level as a ‘healthy’ person would feel fatigue.[sclerodermanews.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]
  • 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]
  • 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]
Weakness
  • 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]
  • 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.[symptoma.com]
  • Muscular involvement can lead to muscular pain and weakness, and cramps. Severe life-threatening renal involvement may occur (about 2% of cases). Pulmonary fibrosis is frequently seen (60% of cases).[orpha.net]
  • […] on the fingertips Digestive problems ( heartburn, trouble swallowing, diarrhea, stomach cramps) Respiratory problems (chronic cough, difficulty breathing, tiredness) Kidney involvement can lead to hypertension Fatigue (easily becoming tired) Muscle weakness[my.clevelandclinic.org]
  • Other signs are symptoms of carpal tunnel syndrome or muscle weakness.[sclerodermasociety.co.uk]
Weight Loss
  • 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]
  • Lastly, substances used to minimize appetite and contribute to weight loss (derivatives of phenylethylamine ) are also believed to trigger systemic sclerosis.[symptoma.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]
  • This can lead to the inability to absorb nutrients from food, an overgrowth of bacteria in the bowel, weight loss, and diarrhea or constipation. Diffuse Systemic Sclerosis: This condition typically comes on suddenly.[scleroderma.ca]
Dyspnea
  • 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]
  • 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]
  • […] 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]
  • Results: The most common presenting symptoms were skin binding-down (98.5%), Raynaud's phenomenon 92.9%, pigmentary changes 91%, contracture of fingers 64.6%, fingertip ulcer 58.6%, restriction of mouth opening 55.5%, dyspnea 51.1%, joint complaints 36.7%[dx.doi.org]
  • Secondary outcome measures included changes in appearance on high-resolution computed tomography and dyspnea scores. An intent-to-treat statistical analysis was performed.[ncbi.nlm.nih.gov]
Dry Cough
  • 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]
  • 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]
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]
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 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]
  • Antibiotics can decrease small bowel bacteria in patients suffering from bloating, early fullness, and diarrhea.[rheuminfo.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]
Dysphagia
  • The patient was admitted with severe cachexia (37 kg, 170 cm), characteristic byzantine face with microstomy, distal phalanges resorption in both superior limbs and complete dysphagia, with limitation of mouth opening.The Barium swallow test revealed[ncbi.nlm.nih.gov]
  • Diagnosis of SSc can be obvious in patients with combinations of classic manifestations, such as Raynaud phenomenon, dysphagia, and tight skin.[merckmanuals.com]
  • SSc patients complained more frequently (78.8%) of oral symptoms (Xerostomia, dysgeusia, dysphagia and stomatodynia) than controls (28.7%) (χ² 40.23 p 0.001).[ncbi.nlm.nih.gov]
  • 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]
  • Esophageal dysmotility is common and provokes gastroesophageal reflux and sometimes dysphagia. Life-threatening complications can occur such as pulmonary fibrosis and, less frequently, pulmonary arterial hypertension.[orpha.net]
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]
  • 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]
  • […] of systemic sclerosis Gastrointestinal symptoms Upper GIT Gastroesophageal reflux / heart burn Dyspepsia Dysphagia Early satiety Micro-aspiration (accelerates lung disease) Lower GIT Bloating, distention Nausea, vomiting Pain Alternating diarrhoea / constipation[dermnetnz.org]
  • Constipation and diarrhoea may alternate. Pseudo-obstruction is treated initially by bowel rest and antibiotics. Laparotomy may be needed. Surgery may be required for rectal prolapse.[patient.co.uk]
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]
  • 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]
  • […] sclerosis Panniculitis Cutaneous features of systemic sclerosis Gastrointestinal symptoms Upper GIT Gastroesophageal reflux / heart burn Dyspepsia Dysphagia Early satiety Micro-aspiration (accelerates lung disease) Lower GIT Bloating, distention Nausea, vomiting[dermnetnz.org]
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]
  • 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]
  • 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]
  • […] systemic sclerosis Panniculitis Cutaneous features of systemic sclerosis Gastrointestinal symptoms Upper GIT Gastroesophageal reflux / heart burn Dyspepsia Dysphagia Early satiety Micro-aspiration (accelerates lung disease) Lower GIT Bloating, distention Nausea[dermnetnz.org]
Liver Fibrosis
  • 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.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]
  • 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]
  • Developing microstomia due to SSc caused the patient lower self-esteem, depressed mood, and lack of self-acceptance.[prime-journal.com]
  • Interlabial distance (mouth opening) can also be measured Microstomia is defined as an inter-labial distance of less than 4.5 cm.[dermnetnz.org]
Xerostomia
  • SSc patients complained more frequently (78.8%) of oral symptoms (Xerostomia, dysgeusia, dysphagia and stomatodynia) than controls (28.7%) (χ² 40.23 p 0.001).[ncbi.nlm.nih.gov]
  • Systemic Scleroderma (SSc) is an autoimmune disease that affects connective tissue, resulting in hardening skin, reduced vascular perfusion, gingival fibrosis, enlarged periodontal ligament, xerostomia, and trigeminal neuralgia.[ncbi.nlm.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]
Hypertension
  • 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]
  • [HT], pulmonary arterial hypertension [PAH] and pulmonary fibrosis [PF]).[ncbi.nlm.nih.gov]
  • Over the 10 years, arterial hypertension was diagnosed in three patients from the JLS group and in two with JSS. There were no significant differences in BNP concentrations at the final visit.[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]
  • 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]
Heart Failure
  • failure due to dilated cardiomyopathy, likely related to pulmonary hypertension and myocardial fibrosis.[emedicine.com]
  • Complications can include: heart failure cancer kidney failure high blood pressure Treatments for SS have drastically improved in the past 30 years.[healthline.com]
  • Heart failure may be intractable. Ventricular ectopy, even if asymptomatic, increases the risk of sudden death.[merckmanuals.com]
Calcinosis Cutis
  • We describe 2 patients with systemic sclerosis who have multiple umbilicated nodules indistinguishable from calcinosis cutis.[ncbi.nlm.nih.gov]
  • The following seemed to bear little relation to the ultimate prognosis: sex, mode of onset, Raynaud's phenomenon, involvement of lungs and periodontal membrane, calcinosis cutis, and trophic changes.[ahajournals.org]
  • 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]
  • 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]
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]
  • Although skin lesions from both diseases respond clinically to treatment with MTX, systemic sclerosis shows no change in the immunohistochemical parameters investigated, whereas morphoea does.[ncbi.nlm.nih.gov]
  • The cause of the unique skin lesions may be related to the altered connective tissue metabolism similar to that of systemic scleroderma.[ncbi.nlm.nih.gov]
  • The patient showed noteworthy improvement of the skin lesion by use of a combination of intralesional corticosteroid with hyaluronidase and various multiantioxidants, resulting in amelioration of her mouth opening problem.[ncbi.nlm.nih.gov]
  • However, the frequency of T(reg) in skin lesions from patients with SSc or LS, determined as the percentage of CD4( ) cells expressing Foxp3 in the inflammatory infiltrate, was significantly reduced compared with other inflammatory skin diseases.[ncbi.nlm.nih.gov]
Hyperpigmentation
  • […] older patients, and in unexposed portions of the female group without hyperpigmentation.[ncbi.nlm.nih.gov]
  • Abstract Skin hyperpigmentation and itching are characteristic findings in systemic sclerosis (SSC) patients. Stem cell factor (SCF, c-kit ligand) is a multifunctional cytokine which can promote melanocyte and mast cell development.[ncbi.nlm.nih.gov]
  • (see image below) In systemic sclerosis, skin hyperpigmentation of the lower legs is surrounded by areas of hypopigmentation.[emedicine.medscape.com]
  • Skin can breakdown and discharge chalky material (calcium) Salt and pepper dyspigmentation ( hyperpigmentation and hypopigmentation ) Pruritus Rarer cutaneous features Morphoea Most frequently plaque, nodular or linear More common in limited cutaneous[dermnetnz.org]
  • Skin can breakdown and discharge chalky material (calcium) Salt and pepper dyspigmentation ( hyperpigmentation and hypopigmentation ) Pruritus Rarer cutaneous features Morphoea Most frequently plaque , nodular or linear More common in limited cutaneous[dermnetnz.org]
Pruritus
  • For pruritus, camphor and menthol as well as PUVA light treatment may be used.[aocd.org]
  • Skin can breakdown and discharge chalky material (calcium) Salt and pepper dyspigmentation ( hyperpigmentation and hypopigmentation ) Pruritus Rarer cutaneous features Morphoea Most frequently plaque, nodular or linear More common in limited cutaneous[dermnetnz.org]
  • Skin can breakdown and discharge chalky material (calcium) Salt and pepper dyspigmentation ( hyperpigmentation and hypopigmentation ) Pruritus Rarer cutaneous features Morphoea Most frequently plaque , nodular or linear More common in limited cutaneous[dermnetnz.org]
Skin Ulcer
  • These include: Skin: dressings and antibiotic medicines are used for skin ulcers. Surgery may help with tight skin, nodules or ulcers.[patient.info]
  • Raynaud’s can lead to finger swelling, color changes, numbness, pain, skin ulcers and gangrene on the fingers and toes. People with other diseases can also have Raynaud’s and some people with Raynaud’s do not have any other disease.[rheumatology.org]
  • Skin ulcers need prompt attention and may require antibiotics. People with esophageal reflux will be advised to eat small amounts more often, rather than several large meals a day. They should also avoid spicy foods and items containing caffeine.[encyclopedia.com]
Arthralgia
  • The Raynaud phenomenon, swelling of the extremities, and diffuse arthralgias often precede the onset... FULL TEXT[doi.org]
  • 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]
  • Arthralgias and acroosteolysis are frequent. Muscular involvement can lead to muscular pain and weakness, and cramps. Severe life-threatening renal involvement may occur (about 2% of cases). Pulmonary fibrosis is frequently seen (60% of cases).[orpha.net]
  • 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]
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]
  • Patients may develop muscle weakness, or myopathy, either from the disease or its treatments.[en.wikipedia.org]
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]
  • Myalgia, arthralgia and painful oedema: Non-steroidal anti-inflammatory drugs (NSAIDs), if tolerated. Simple analgesics.[patient.co.uk]
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]
  • 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]
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
  • Complications can include: heart failure cancer kidney failure high blood pressure Treatments for SS have drastically improved in the past 30 years.[healthline.com]
  • There is also a slight increase in the risk of cancer.Survival rates have greatly increased with effective treatment for kidney failure. Therapies include immunosuppressive drugs and, in some cases, glucocorticoids.[en.wikipedia.org]
  • 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]
  • Kidney problems may lead to high blood pressure and, if untreated, kidney failure. Lung damage is the leading cause of death with this condition. In rare cases, systemic sclerosis may involve internal organs but not the skin.[arthritis.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]
  • Women may have dyspareunia. Investigations General blood tests FBC. ESR and CRP. Baseline biochemistry and renal function. Autoantibodies [ 6, 7 ] These are now considered crucial for classification.[patient.co.uk]
Renal Impairment
  • Calculating eGFR is best done using the Modification of Diet in Renal Disease formula, which can accurately identify patients with renal impairment [ 21 ].[doi.org]
Headache
  • 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]
  • Patients may experience severe headaches, stroke, or seizure if this happens, or they may be asymptomatic.[hss.edu]
  • […] 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]
  • Patients with SRC may exhibit headaches, hypertensive retinopathy associated with visual disturbances and encephalopathy, seizures, fever and general malaise.[doi.org]
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]
  • Patients may experience severe headaches, stroke, or seizure if this happens, or they may be asymptomatic.[hss.edu]
  • 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]
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]

Workup

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]
  • 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]
  • Other risk factors for SRC include anaemia, HRT, pericardial effusion, cardiac insufficiency, high skin score and large joint contractures, the presence of antibodies to RNA polymerases (ARA; see below) and new cardiac events [ 1, 17, 18 ].[doi.org]
Esophageal Motility Disorder
  • Carla Maradey-Romero, Scott Gabbard and Ronnie Fass, Treatment of Esophageal Motility Disorders Based on the Chicago Classification, Current Treatment Options in Gastroenterology, 10.1007/s11938-014-0032-9, 12, 4, (441-455), (2014).[doi.org]
Microalbuminuria
  • Reduced renal functional reserve - proteinuria, microalbuminuria or reduced glomerular filtration rate (GFR). Scleroderma renal crisis.[patient.co.uk]
Myocardial Fibrosis
  • fibrosis, and renal vascular changes resembling those of malignant hypertension; Raynaud phenomenon, atrophy of the soft tissues, and osteoporosis of the distal phalanges (acrosclerosis), sometimes with gangrene at the ends of the digits, are common[medical-dictionary.thefreedictionary.com]
  • Diffuse myocardial fibrosis or cardiac conduction abnormalities occur. Intimal hyperplasia of interlobular and arcuate arteries can develop within the kidneys, causing renal ischemia and hypertension.[merckmanuals.com]
  • Myocardial fibrosis. Left ventricular (LV) systolic dysfunction, LV diastolic dysfunction. Pericarditis or pericardial effusion ; these may cause cardiac impairment or congestive cardiac failure.[patient.co.uk]
  • Pattern and distribution of myocardial fibrosis in systemic sclerosis: a delayed-enhanced magnetic resonance imaging study. Arthritis Rheum 2007;56:3827-36. 67. Lachter J, Suissa A, Schiff E, Rosner I. Anemia in CREST syndrome.[degruyter.com]

Treatment

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.

Prognosis

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.

Etiology

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.

Epidemiology

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]. 

Sex distribution
Age distribution

Pathophysiology

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.

Prevention

Systemic scleroderma cannot be prevented.

Summary

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.  

Patient Information

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. 

References

Article

  1. Hinchcliff M, Varga J. Systemic sclerosis/scleroderma: a treatable multisystem disease. Am Fam Physician. 2008 Oct 15; 78(8):961-8.
  2. Rubin LJ, Badesch DB, Barst RJ, et al. Bosentan therapy for pulmonary arterial hypertension. N Engl J Med. 2002; 346:896-903.
  3. Troldborg A, Nielsen BD, Kolstad HA, et al. [Silica exposure and the risk of systemic sclerosis.]. Ugeskr Laeger. 2013 Feb 18; 175(8):501-503.
  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.

  6. Helmick CG, Felson DT, Lawrence RC, et al. Estimates of the prevalence of arthritis and other rheumatic conditions in the United States: part I. Arthritis Rheum. 2008; 58:15-25.

  7. Sakkas LI. New developments in the pathogenesis of systemic sclerosis. Autoimmunity. 2005 Mar; 38(2):113-6.
  8. Alba MA, Velasco C, Simeón CP, et al. Early- versus Late-Onset Systemic Sclerosis: Differences in Clinical Presentation and Outcome in 1037 Patients. Medicine (Baltimore). 2014 Mar; 93(2):73-81.
  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.
  10. Schieir O, Thombs BD, Hudson M, et al. Prevalence, severity, and clinical correlates of pain in patients with systemic sclerosis. Arthritis Care Res (Hoboken). 2010 Mar; 62(3):409-17.
  11. Kepez A, Akdogan A, Sade LE, et al. Detection of Subclinical Cardiac Involvement in Systemic Sclerosis by Echocardiographic Strain Imaging. Echocardiography. 2008 Feb; 25(2):191-197.
  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.

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Last updated: 2018-06-22 02:43