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Sclerodactyly

Sclerodactyly is a term that denotes skin and tissue changes in the fingers and toes that most commonly arise in the setting of Scleroderma and the CREST syndrome. Principal changes include skin thickening, accumulation of collagen, and atrophy of the surrounding tissues with fibrosis. The diagnosis is made clinically, and treatment includes topical corticosteroids, as well as management of the underlying systemic disease.


Presentation

Patients with sclerodactyly report progressive changes in the fingers, and toes in some cases. Usually, patients report symmetric changes on interphalangeal joints, which are most commonly affected. In the early stages, edema that may last for weeks or months, accompanied by the shiny appearance of skin that is very tight. Hypo or hyperpigmentation of the skin may be present, and progressive changes lead to reduced motility, sclerosis, and in severe cases, skin ulcerations may be observed.

Sclerodactyly is usually accompanied with other symptoms that occur in Scleroderma, such as dysphagia, acid reflux, and malabsorption in the case of gastrointestinal involvement. Joint pain, dyspnea are also common findings in patients with this connective tissue disease, and a thorough workup should be performed to assess the severity of the disease and which organs are affected.

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Scleral Icterus
  • Physical examination showed scleral icterus, jaundice, and sclerodactyly , as well as a palpable liver 2 cm below the costal margin and multiple firm, whitish dermal papules on her left forearm.[medical-dictionary.thefreedictionary.com]
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  • Several conditions may present with findings similar to those of PSS.[ 1 ] Acrocyanosis may be seen with pulmonary hypertension, anorexia nervosa and frost-bite but without associated pallor or reflex hyperemia.[ncbi.nlm.nih.gov]
Disorder of Digit
  • Calcinosis cutis (disorder) Disorder of digit (disorder) Disorder of hand Secondary Raynaud's phenomenon Systemic sclerosis with limited cutaneous involvement Name: Calcinosis, Raynaud's phenomenon, sclerodactyly, and telangiectasia syndrome (disorder[snomedbrowser.com]
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  • Color changes are often accompanied by symptoms that can include pain and paresthesias. The phenomenon lasts minutes to hours, and the patient is symptom-free between episodes.[emedicine.medscape.com]

Workup

The diagnosis of sclerodactyly is made by clinical observation and typical changes in the skin and surrounding tissues. As an isolated finding, it is diagnosed rather easily, but if clinical suspicion of Scleroderma in patients with sclerodactyly is high, laboratory studies should be performed to confirm the diagnosis.

Principal investigations include serological evaluation for ANA and Topoisomerase I antibodies, which are positive in the majority of patients [9]. Anticentromere antibodies are also highly indicative of Scleroderma in patients, and should be tested as well [10].

Accompanying organ-related symptoms should be thoroughly evaluated as well. Serum values of calcium and phosphorus should be obtained in patients with subcutaneous calcifications, together with radiographic techniques such as plain radiography and computed tomography (CT scan) [11]. Esophageal involvement, which is rather common in Scleroderma, should be investigated through esophageal manometry, which shows positive results frequently in patients with CREST syndrome [12]. Esophagogastroduodenoscopy is an alternative method [13].

Angiography and Doppler ultrasonography are recommended procedures in the case of digital ischemia, which may reveal anatomical and functional abnormalities that can be corrected with surgical treatment.

Treatment

Sclerodactyly is managed through the administration of topical corticosteroid therapy, but the management of underlying systemic disease is equally important, together with symptomatic therapy.

Since there is no cure for Scleroderma, treatment strategies include administration of immunosuppressive agents, including azathioprine, cyclophosphamide, cyclosporine, and methotrexate, while oral corticosteroids may be used as well. NSAIDs are used in patients who experience joint-related symptoms, to alleviate pain and inflammation, while calcium channel blockers (such as nifedipine, in doses of 20 mg po q6h), angiotensin-receptor blockers (such as losartan in doses of 50 mg po q24h), or endothelin receptor antagonists (such as bosentan) may reduce the severity of skin-related symptoms and Raynaud's phenomenon.

Prognosis

The prognosis depends on the underlying cause, but patients in whom sclerodactyly develops as a component of Scleroderma and another form of connective tissue disease, the progression of changes is slow, and most patients develop complications of other organs that may lead to fatal outcomes, which is why a detailed workup is necessary for patients who present with sclerodactyly.

Etiology

Sclerodactyly most commonly arises in the setting of CREST syndrome and Scleroderma, a mixed connective tissue disease that does not have an identifiable cause.

In addition to scleroderma, sclerodactyly has been strongly associated with occupational exposure to numerous compounds, including silica, vinyl chloride, carbon tetrachloride, and other organic solvents [3] [4]. Pesticides, as well as certain drugs, have also been implicated in the pathogenesis [5].

Sclerodactyly and similar changes in the skin have been observed in patients with diabetes mellitus, implying altered metabolism and immune function in this syndrome as well [6]. For unknown reasons, sclerodactyly, as a component of the CREST syndrome, is diagnosed in up to 10% of patients with primary biliary cirrhosis [7].

Infections are also hypothesized as a trigger for Scleroderma, including viral pathogens such as human herpesvirus-5, parvovirus B19 [8], but more evidence is necessary to support this theory.

Epidemiology

Sclerodactyly, when considered as a part of CREST syndrome and Scleroderma, is more commonly observed in women, since Scleroderma occurs much more frequently in women than men. However, in the case of occupational exposure, it is usually encountered in men more frequently than women. Sclerodactyly is rarely diagnosed in children, and it is most often observed in middle-aged adults. Racial predilection is not determined.

Sex distribution
Age distribution

Pathophysiology

The pathogenesis of sclerodactyly involves initial inflammatory changes in the dermis. Perivascular inflammation leads to activation of fibroblasts, which synthesize excessive amounts of collagen, and facilitate its deposition in the dermis, and initial edematous changes transform into sclerosis and atrophy of the dermis and surrounding structures of the skin. Blood vessels are also affected by inflammatory changes, and collagen deposition leads to constriction and fibrosis, leading to thrombosis and ischemia of the tissue that is supplied. In severe cases that are left untreated, atrophic ulcers may develop as a result of severe ischemia, and they are observed in 30-50% of patients.

Prevention

Sclerodactyly has a slowly progressive course. Proper therapy of the underlying connective tissue disease may significantly slow down further progression, but other preventive measures have been proposed, such as cessation of smoking, maintaining warm fingers through the use of warm clothes, and skin protection through avoiding harsh soaps and detergents. Avoiding, or reducing occupational exposure to substances that are correlated with the development of sclerodactyly is highly recommended.

Summary

Sclerodactyly is a term that describes changes that occur in the fingers and toes that are most commonly observed in patients with Scleroderma, a systemic connective tissue disease, and is a component of the CREST syndrome (Calcinosis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia). The cause of sclerodactyly (from the Greek word "skleros" meaning hard, and "daktylos" meaning fingers or toes), and the underlying Scleroderma, is not completely known. Several factors have been implied in the pathogenesis of sclerodactyly, including environmental exposure to silica and organic solvents [1] [2], viral infections, as well as genetic factors including mutations of HLA subtypes. Initial changes include skin thickening and dermal sclerosis, as a result of fibroblast activation, and accumulation of collagen and skin vessel damage, resulting in damage to hair follicles, sebaceous and sweat glands. Extensive damage and fibrosis of subcutaneous tissues and the dermis is the end-result, and in severe cases, muscle atrophy, subcutaneous calcifications, trophic ulcers, and contractures in the interphalangeal joints may develop. The development of sclerodactyly, as a component of Scleroderma, is observed almost four times more commonly in women than men, and rarely develops in children. The clinical presentation of sclerodactyly usually involves the fingers and toes and includes a slowly progressive development of skin changes, including swelling, appearance of tight and shiny skin over the fingers, as well as hyper or hypopigmentation. In severe cases, contractures, limited mobility, and atrophy of proximal muscles may be observed. The diagnosis of sclerodactyly is made clinically, and together with other findings that may indicate the presence of Scleroderma, such as dysphagia, acid reflux, dyspnea, polyarthralgia, and other symptoms indicative of this connective tissue disorder, workup should include serological evaluation of autoantibodies, including antinuclear (ANA) and Scleroderma-specific (Scl-70). Patient history, and occupational exposure to certain agents that may cause this disease should be documented, and is an important part of the diagnostic workup. Sclerodactyly is managed through topical administration of corticosteroids, while calcium channel and endothelin receptor blockers have been used in some patients to reduce calcifications and improve blood flow. Treatment of underlying disease includes management of symptoms with immunosuppressants, such as methotrexate, azathioprine, and cyclophosphamide.

Patient Information

Sclerodactyly is a term used to describe changes that occur in the fingers, and sometimes toes, most commonly due to Scleroderma, a disease of connective tissue. For unknown reasons, inflammation of blood vessels and structures of the skin result in abnormal activation of fibroblasts resulting in increased collagen production. Excessive collagen causes the tissues to become "sclerotic", or to harden, and the skin over the fingers appears shiny and tight in these patients. Eventually, these changes may compromise blood flow to the fingers, which can cause reduced or absent mobility of the fingers.

As mentioned, this condition is most commonly diagnosed as a part of Scleroderma, which is a connective tissue disease that occurs for still unknown reasons, but these changes in the fingers are also observed in patients with diabetes mellitus, and in individuals who are exposed to high amount of silica, and organic solvents, suggesting an environmental factor in the development of this disease. Sclerodactyly is much more commonly observed in women, and it is usually diagnosed in middle-aged adults.

The progression of sclerodactyly is slow and may take months or even years for symptoms to develop. Patients with sclerodactyly initially report swelling and limited movement of the fingers, as well as changes in the color and appearance of the skin. In severe cases, ischemia of the fingers may develop, and lead to ulceration. However, this phenomenon is observed as a part of another disease in the vast majority of patients. So patients may often report symptoms related to swallowing, development of calcifications under the skin, joint and muscle pain, difficulty in breathing, and other symptoms.

Because the prognosis of Scleroderma is poor for patients that are not promptly treated, all patients with sclerodactyly should undergo full diagnostic workup. Organ-related symptoms should be properly investigated, and the diagnosis of Scleroderma can be achieved through testing for autoantibodies, including antinuclear (ANA), Topoisomerase I (Scl-70), and anticentromere antibodies.

Treatment of Sclerodactyly involves topical administration of corticosteroids, but also the management of the underlying disease with immunosuppressants, such as azathioprine, methotrexate, or cyclophosphamide. Other drugs have been used in the management of skin and tissue changes, such as calcium channel antagonists, endothelin antagonists, and angiotensin-receptor antagonists, to try to improve blood flow and prevent further tissue damage.

References

Article

  1. Dospinescu P, Jones GT, Basu N. Environmental risk factors in systemic sclerosis. Curr Opin Rheumatol. 2013;25(2):179-83.
  2. Nietert PJ, Sutherland SE, Silver RM, Pandey JP, Knapp RG, Hoel DG. Is occupational organic solvent exposure a risk factor for scleroderma?. Arthritis open link Rheum. 1998;41(6):1111-8.
  3. Marie I, Gehanno JF, Bubenheim M, Duval-Modeste AB, Joly P, Dominique S. Prospective study to evaluate the association between systemic sclerosis and occupational exposure and review of the literature.Autoimmun Rev. 2014;13(2):151-6.
  4. Mora GF. Systemic sclerosis: environmental factors. J Rheumatol. 2009;36(11):2383-96.
  5. Barragán-Martínez C, Speck-Hernández CA, Montoya-Ortiz G, Mantilla RD, Anaya JM, Rojas-Villarraga A. Organic solvents as risk factor for autoimmune diseases: a systematic review and meta-analysis. PLoS One. 2012;7(12):e51506.
  6. Ferringer T, Miller F 3rd. Cutaneous manifestations of diabetes mellitus. Dermatol Clin. 2002;20(3):483-92.
  7. Talwalkar JA, Lindor KD. Primary biliary cirrhosis. Lancet. 2003 Jul 5;362(9377):53-61.
  8. Moroncini G, Mori S, Tonnini C, Gabrielli A. Role of viral infections in the etiopathogenesis of systemic sclerosis. Clin Exp Rheumatol. 2013;31(2 Suppl 76):3-7.
  9. Gonzalez R, Storr M, Bloching H, Seige M, Ott R, Allescher HD. Autoantibody profile in progressive systemic sclerosis as markers for esophageal involvement. J Clin Gastroenterol. 2001;32(2):123-7.
  10. Aeschlimann A, Meyer O, Bourgeois P, et al. Anti-Scl-70 antibodies detected by immunoblotting in progressive systemic sclerosis: specificity and clinical correlations. Ann Rheum Dis. 1989;48(12):992-7.
  11. Bar-Sever Z, Mukamel M, Harel L, Hardoff R. Scintigraphic evaluation of calcinosis in juvenile dermatomyositis with Tc-99m MDP. Clin Nucl Med. 2000;25(12):1013-6.
  12. Strumia R. Videodermatoscopy: a useful tool for diagnosing cutaneous dystrophic calcifications. Dermatol Online J. 2005;11(1):28.
  13. Ling TC, Johnston BT. Esophageal investigations in connective tissue disease: which tests are most appropriate? J Clin Gastroenterol. 2001;32(1):33-6.

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Last updated: 2018-06-22 12:01