Clinical and laboratory assessment

A vision of best practices in the management of dermatomyositis (DM) entails both improving specific knowledge and skills of the average practicing dermatologist as well as the development of evidence-based guidelines that will help guide even the most seasoned experts. At a minimum, dermatologists should play the major role in recognition, assessment, interpretation, and management of the cutaneous signs of the disease. Dermatologists should consider the diagnosis in cases not only with classic cutaneous findings but also in those with more atypical presentations that mimic hand dermatitis, psoriasis, or lupus. Dermoscopy should be used regularly to detect periungual telangiectasias, a sensitive marker for DM. It should be common knowledge for a dermatologist that a significant proportion of patients with DM will never develop detectable muscle inflammation. Our specialty needs to also appreciate the spectrum of histologic changes in DM skin biopsies and not rule out the diagnosis if interface dermatitis is not reported while at the same time advocating for the importance of biopsies for ruling out mimickers of DM. The dermatologist should understand how to use serologic testing to diagnose DM and order these tests on all patients with any skin eruption that could be consistent with DM; this includes not depending on a positive ANA for diagnosis as well as routinely ordering the recently described DM-specific autoantibodies. All dermatologists should be able to identify typical signs and symptoms associated with active (vs damaged) skin disease in order to optimize therapy and prevent unnecessary use of immunosuppressants.

Screening for systemic disease

In a best practice scenario, dermatologists would always appropriately screen their patients with DM for internal malignancy. This screening includes an understanding of the time (within 1–2 years of first DM symptom) and patient population (clinical and laboratory risk factors) that are most appropriate to conduct such a search. Dermatologists should understand how advanced age, male sex, cutaneous necrosis, and autoantibodies inform risk for internal malignancy. Dermatologists should be prepared to use not only the history, physical examination, and age-appropriate cancer screening but also more aggressive testing (such as computed tomography or traditional cancer screening tests out of the appropriate age window) in order to identify the patients with internal malignancy.

In addition, all dermatologists should at least be able to effectively screen patients for evidence of extracutaneous (systemic) disease in DM. Myositis should be assessed by evaluating not only for weakness but also asking about myalgia, dysphagia, and dysphonia as well as performing basic muscle strength testing in the clinic. All patients should be regularly screened with muscle enzymes (creatine kinase, aldolase, lactate dehydrogenase, aspartate transaminase, alanine transaminase) every 3 to 6 months; however, every physician should recognize that significant muscle inflammation can occur even if these tests are normal and should understand that electromyography and/or MRI should be performed in this setting in patients with clinically significant weakness or dysphagia. Dermatologists should regularly (perhaps annually) screen their patients for interstitial lung disease by ordering and interpreting annual pulmonary function testing. They should be able to identify clinical (mechanics hands, Raynaud, cutaneous ulcerations) and laboratory (antisynthetase or anti-melanoma differentiation-associated protein 5 (MDA5) autoantibodies) risk factors for interstitial lung disease and, in high-risk patients, consider more frequent or aggressive screening.

Patient counseling and treatment

Optimal patient management by a dermatologist would include both counseling and effective therapy for their skin disease. Patients should be counseled regarding the risk of internal malignancy, extracutaneous disease (especially muscle and lung involvement), and specific skin complications, such as ulceration and calcinosis. Ideally each provider would use a simple DM-specific skin activity instrument (such as the Cutaneous Dermatomyositis Activity and Severity Index) with his or her patients in order to quantify skin disease activity and rationally evaluate the treatment regimen. Every dermatologist should assess how DM skin disease is impacting patients’ quality of life in order to avoid the pitfall of undertreating skin disease and should appreciate that the topical therapies alone will not be sufficient skin therapy for most patients. Thus, they would be comfortable prescribing and safely monitoring traditional and biological systemic agents (including antimalarials, methotrexate, mycophenolate mofetil, leflunomide, and intravenous immunoglobulin) or be willing and able to refer patients to local dermatologists that can do so. Dermatologists should take the role as primary provider for those patients with DM with skin-predominant disease but understand when referral to other subspecialties (eg, rheumatology, pulmonology, neurology) is warranted if patients have evidence of clinically significant extracutaneous disease.

Morphea: best practices

To date, no best practices have been established for morphea. The Childhood Arthritis and Rheumatology Research Alliance (CARRA) has published a consensus treatment and assessment plan for children with morphea. CARRA’s hope is that all pediatric rheumatologists will treat and assess childhood morphea the same, which will allow for comparative effectiveness studies and ultimately the establishment of best practices. The Morphea Research Alliance (MRA) is striving to establish consensus treatment and assessment plans for adults with morphea.

The following practices are recommended by experts in morphea. The patient history should document time of onset, rapidity of lesion growth/new lesion onset, possible triggers (trauma, radiation), symptoms associated with the morphea lesions, the impact of the disease on quality of life, a history assessing for other comorbid autoimmune diseases, and a family history assessing for autoimmunity.

A full-body skin examination (including the oral and genital mucosa given the co-occurrence of mucosal involvement) of patients with morphea is helpful to assess the extent of involvement and to categorize patients’ morphea subtype (circumscribed, generalized, linear, mixed, pansclerotic) and depth of involvement (dermal, deep dermal, subcutaneous fat, muscle, bone). The subtype of morphea and depth of involvement are important factors in therapeutic decisions and prognosis counseling. The physical examination, along with history, can be used to establish whether the disease is in the active phase (ie, patients are developing new morphea lesions, having expansion of existing lesions, or have erythema or violaceous discoloration surrounding the lesions). Active disease is treatable with immunosuppression. Morphea in the damage phase (stable number of plaques, no expansion of the plaques, hyperpigmented or sclerotic plaques without signs of inflammation) will not improve with immunosuppression. Physical examination should also be used to assess for range of motion in all involved joints. Any limitations should be documented for clinical monitoring and patients with range of motion limitations referred to physical therapy and/or occupational therapy. Physical examination should also be used to help rule out systemic sclerosis. (Sclerodactyly, nail fold capillary changes, and Raynaud’s phenomenon are early signs of systemic sclerosis that are not present in patients with morphea.)

There are no autoantibodies that are specific to morphea; therefore, autoantibody tests are not helpful in the diagnosis or prognosis of morphea. Assessment of autoantibodies specific to systemic sclerosis (anticentromere, antitopoisomerase, anti–RNA polymerase III) is unnecessary in the evaluation of patients with morphea. The diagnosis of systemic sclerosis requires a combination of physical examination findings, Raynaud phenomenon, and autoantibodies. Positive systemic sclerosis–specific antibodies in isolation (ie, in patients without sclerodactyly, Raynaud phenomenon, and nail fold capillary changes) are not helpful diagnostically and are most likely to be false-positive results. Biopsy is not required to make a diagnosis of classic morphea; however, biopsy may be helpful in nontraditional presentations.

Objective measurements of disease activity (full-body photographs or body maps with locations and measurements or the Localized Scleroderma Assessment Tool [LoSCAT] ) should occur at each visit to monitor response to therapy. Children with head and neck morphea should be evaluated by ophthalmology to assess for asymptomatic ocular involvement (which is treatable and may prevent vision loss). Although linear morphea of the head and neck has been associated with involvement of the central nervous system, MRI findings have not been correlated with symptoms and signs of central nervous system (CNS) involvement. Therefore, only children with signs or symptoms of CNS involvement should undergo MRI.

Morphea treatment decisions need to take into account the disease subtype, depth of involvement, and quality-of-life impairments. In general, patients with active deep linear morphea, active deep mixed variant morphea, active deep generalized morphea, and active pansclerotic morphea should be treated with systemic steroids (a 3-month taper) and methotrexate (ideally for a duration of 2 years) in an attempt to prevent new lesion formation and functional impairment. Patients with active superficial circumscribed morphea may be treated with topical therapy or localized phototherapy. Patients with active superficial generalized morphea may be treated with topical therapy, phototherapy, or a combination of systemic steroids and methotrexate based on patient preference and comorbidities. Patients with morphea should also be counseled that treatment is not always necessary, particularly for asymptomatic disease that is not causing or at risk of causing functional limitations. Patients with morphea in the nonactive phase should be educated on signs of disease recurrence and offered clinical monitoring.

Lastly, but perhaps most importantly, patients need to leave their dermatologist’s office understanding that morphea is not systemic sclerosis and will not increase their chances of developing systemic sclerosis in the future. Patient educational materials on morphea may be found through the Journal of the American Medical Association Dermatology .

Morphea: estimate current practice

The MRA has surveyed the Medical Dermatology Society and Rheumatologic Dermatology Society on their current practices in regard to the evaluation and treatment of morphea (unpublished data). History, physical examination, and referrals to physical therapy and occupational therapy were regularly performed. Most respondents ordered autoantibodies in the evaluation of morphea, particularly anti-Scl70 and anticentromere antibodies (antibodies specific for systemic sclerosis). Respondents did not routinely have an organized and objective way of monitoring disease activity and response to therapy. Topical steroids are being routinely prescribed for subtypes of morphea that are unlikely to respond to topical therapy (linear disease, deep generalized disease). Methotrexate is not routinely prescribed for those patients with active linear morphea.

Additionally, it is estimated that very few clinicians assess the quality of life in their patients with morphea, perform examinations of the oral and genital mucosa, rigorously assess for range-of-motion limitations, or educate patients on the difference between morphea and systemic sclerosis. Patients in the damage (ie, nonactive) phase of morphea may also be unnecessarily treated with immunosuppressants.

Morphea gaps

The gaps that exist in the care of patients with morphea result from lack of knowledge, specific practice patterns, the need for development of new skills, and the need for a change in attitudes. Development of defined best practices and guidelines for the evaluation and treatment of patients with morphea would help to close many of our knowledge, skill, specific practice, and attitude gaps. The lack of defined best practices contributes to the overuse of laboratory testing for autoantibodies, the lack of patient education on the differences between morphea and systemic sclerosis, the lack of objective disease monitoring, the lack of aggressive treatment of morphea that impairs quality of life and physical functioning, the lack of quantification of quality-of-life issues in clinical practice, the lack of oral and genital mucosal examination to exclude mucosal involvement, and the inappropriate treatment of patients with morphea in the damage phase with immunosuppressant medications.

There are many barriers to developing best practices. The first step in developing guidelines for the assessment and treatment of a condition is to describe the current practices. Revealing how physicians are treating a rare condition to other physicians establishes treatment norms and, therefore, consensus. Consensus can then be used to establish guidelines. When studying rare diseases, data need to be pooled across practices in a standardized fashion to enable comparative effectiveness studies, which can then be used to establish best practices. Establishing best practices for a rare disease requires an international effort, a lot of protected time, and funding.