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Background
Dermatomyositis classically has an inflammatory rash associated with a suppurative polymyositis. The rash may precede the development of the muscular involvment, be concurrent, or occur after. Cases without muscle involvement are called dermatomyositis sine myositis. The disease can occur at any age or sex. The rash has a violaceous scaly appearance occurring on the face, shoulders, and extensor surfaces of the forearms and thighs. A heliotrope rash and Gottron's papules may be present. Poikiloderma is frequent. Photosensitivity may be present.
This is an autoimmune disorder. It is associated with anti-nuclear antibodies including anti-Jo-1 antibody. There is a sparse lichenoid inflammatory cell infiltrate composed of HLA-DR positive macrophages and CD4 positive T lymphocytes. The membrane attack complex (MAC) has been demonstrated by immunofluorescence along the dermoepidermal junction and blood vessels. The lupus band test is usually negative.
Interestingly, a dermatomyositis-like syndrome has been associated with toxoplasmosis, pregnancy, hydroxyurea, and penicillamine therapy.
OUTLINE
EPIDEMIOLOGY CHARACTERIZATION GENERAL
University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
BACKGROUND: The current diagnostic criteria for dermatomyositis (DM) exclude patients without muscle involvement. As a result there is a paucity of research related to the complete spectrum of the disease.
OBJECTIVE: The goal of this study was to evaluate differences in the clinical manifestations of DM seen by dermatology relative to rheumatology. We hypothesized that patients with minimal (hypomyopathic) or no (amyopathic) muscle disease would more likely be seen in dermatology, whereas those with more severe (classic) muscle disease would be seen in rheumatology.
METHODS: We performed a retrospective chart review of patients with DM seen by our dermatology and rheumatology departments to classify spectrum, presentation, and complications. Patients seen between July 1, 2003, and June 30, 2006, were identified by Current Procedural Terminology billing code 710.3. Patients with mixed connective tissue diseases or miscoded DM were excluded.
RESULTS: In all, 131 (65%) patients seen in dermatology, 58 (29%) in rheumatology, and 13 (6%) in both departments were identified. In all, 83 (69%) patients seen in dermatology, 27 (23%) in rheumatology, and 10 (8%) in both departments met criteria for inclusion in the study. The number of patients seen in rheumatology given the classification of classic DM (CDM) (24 of 27 [89%]), hypomyopathic DM (2 of 27 [7%]), and amyopathic DM (ADM) (1 of 27 [4%]) differed significantly from dermatology, where CDM comprised 27 of 83 (33%), hypomyopathic DM comprised 23 of 83 (28%), and ADM comprised 33 of 83 (40%) of the population, respectively (P < .001). Sex, ethnicity, and rates of interstitial lung disease differed between departments. There was no difference in the rates of interstitial lung disease between CDM and ADM (P = .30). The degree of muscle involvement did not correlate with the rates of DM-associated malignancy (P = .57). Few patients with ADM had muscle biopsy (n = 1) or electromyography (n = 7) testing. Positive anti-Jo-1 was seen in 2 of 96 patients (2%; one CDM and one ADM, both with interstitial lung disease), reflecting an overall low prevalence of this autoantibody, or a potential problem with the laboratory assay.
LIMITATIONS: Patients reflect the population in only one institution and, thus, the results may not be generalizable to other settings or referral centers. Because this is a retrospective chart review, results are limited by missing data and nonstandardized physical examinations and laboratory data across patients and physicians.
CONCLUSIONS: There is a clear difference in DM presentation to dermatology and rheumatology by degree of myositis-complicated disease.
DISEASE ASSOCIATIONS CHARACTERIZATION MALIGNANCY 10-15% of cases
Often associated with subepidermal bullous disease
Dermatomyositis and malignancy in Tunisia: a multicenter national retrospective study of 20 cases.Mebazaa A, Boussen H, Nouira R, Rokbani L, Ben Osman-Dhahri A, Bouaouina N, Laouani-Kechrid C, Louzir B, Zahaf A, Kamoun MR.
Department of Dermatology, La Rabta University Hospital, Tunis.
J Am Acad Dermatol 2003 Apr;48(4):530-4 Abstract quote OBJECTIVE AND METHODS: The aim of our study was to report the epidemiologic, clinical, and biologic profiles of dermatomyositis (DM) associated with malignancy in patients from Tunisia. From January 1982 to January 2000, we collected retrospectively 20 case reports of DM associated with cancer from the different university hospital centers of Tunisia. Initial workup included anamnesis, clinical examination, cancer staging and classification, serum muscle enzymes (creatine phosphokinase, lactate dehydrogenase, aldolase, and transaminases), electromyography, and muscular biopsy. We calculated the median survival and mean value of all the variables. Comparisons of statistical tests were done with the Kruskal-Wallis test.
RESULTS: Among the 130 DM cases of our study, 20 were associated with cancer (15.38%). The mean age of our patients was 49.6 years and the sex ratio (female/male) was equal to 3. Cancers were mainly those of the breast (35%) and nasopharynx (25%). DM followed a paraneoplastic course in 90% of the cases. The profile of seric muscular enzymes showed a significant statistical difference (P =.05) between a group of patients with severe muscular weakness and a group with moderate muscle weakness only for creatine kinase. The median survival was 36.5 months after diagnosis of DM and 48.6 months after that of cancer. The 5-year actuarial survival was 38% as related to cancer and 16% as related to DM. Mortality was 45%, in 90% as a result of cancer.
CONCLUSIONS: In our study, nasopharyngeal carcinoma represents the second cancer associated with DM, after breast neoplasm, demonstrating the frequency of these 2 cancers in our country. Despite our reduced number of study samples, our study also suggests a relationship between severe muscle weakness and high seric muscle enzymes.
Dermatomyositis and
sarcoid-like reaction associated with multiple myeloma treated effectively by high-dose chemotherapy and autologous peripheral blood stem cell transplantation.Chakraverty R, Rabin N, Peggs K, Robinson S,
Duncan JR, Yong K.Institute of Cancer Studies, University of Birmingham, Edgbaston, UK.
Bone Marrow Transplant 2001 Jun;27(11):1215-7 Abstract quote
We report the case of a 46-year-old male who developed dermatomyositis and a sarcoid-like reaction in association with testicular relapse of multiple myeloma.
The myositis progressed despite chemotherapy directed at the underlying malignant disorder and immunosuppressive treatment. There was, however, a dramatic and sustained response to high-dose chemotherapy and autologous peripheral blood stem cell transplantation which resulted in resolution of the myopathy and partial resolution of the sarcoid-like reaction.
This case report highlights the potential of autologous stem cell transplantation as treatment for para-neoplastic disorders associated with haematological malignancies.
Primary lung cancer associated with polymyositis/
dermatomyositis, with a review of the literature.Fujita J, Tokuda M, Bandoh S, Yang Y, Fukunaga Y, Hojo S, Ueda Y, Dobashi N, Dohmoto K, Ishida T, Takahara J.
First Department of Internal Medicine, Kagawa Medical University, Japan.
Rheumatol Int 2001 Feb;20(2):81-4 Abstract quote
It has been suggested that lung cancer is frequently associated with polymyositis/dermatomyositis (PM/DM). The purpose of this study was to describe the clinical features of primary lung cancer associated with PM/DM.
We first describe the clinical features of two cases treated in our hospital, and then provide a review of the literature. Finally, 24 patients (five females and 19 males) with primary lung cancer associated with PM/DM are retrospectively evaluated. Histological types of lung cancer were as follows: small cell lung cancer (n = 7), squamous cell carcinoma (n = 5), adenocarcinoma (n = 2), others (n = 5), and unknown (4). The onset of PM/DM is frequently observed before the detection of lung cancer.
This is the first report to describe the clinical features of lung cancer associated with PM/DM.
Routine vs extensive malignancy search for adult dermatomyositis and polymyositis: a study of 40 patients.Sparsa A, Liozon E, Herrmann F, Ly K, Lebrun V, Soria P, Loustaud-Ratti V, Bouyssou-Gauthier ML, Boulinguez S, Bedane C, Jauberteau MO, Vidal E, Bonnetblanc JM.
Department of Dermatology, University Hospital of Limoges, Limoges, France.
Arch Dermatol 2002 Jul;138(7):885-90 Abstract quote OBJECTIVE: To identify potential risk factors and the yield of routine screens for early detection of malignancy associated with dermatomyositis (DM) and polymyositis (PM).
DESIGN: Retrospective study of malignancies in all patients with DM or PM followed up between the years 1981 and 2000 and a review of the relationship of DM and PM to malignancy, the usefulness of various tests or examinations for malignancy search, and the patients' course.
SETTING: Departments of internal medicine and dermatology in a teaching hospital.
PATIENTS: Forty consecutive adult patients with DM (33 cases) or PM (7 cases).
MAIN OUTCOME MEASURES: (1) Rate of false-negative results of routine workup and yield (percentage of positive results) of blind malignancy search and (2) comparison of 16 characteristics in patients with malignancy vs those without.
RESULTS: Malignancy occurred in 16 patients: 13 with DM and 3 with PM. In all cases, the diagnosis of malignancy was made concurrently with or shortly after the diagnosis of DM or PM. Factors associated with malignancy were recruitment in the internal medicine department (P =.02), constitutional symptoms (P<.01), a rapid onset of DM or PM (P =.02), the lack of Raynaud phenomenon (P<.01), and a higher mean erythrocyte sedimentation rate (P<.01) and creatine kinase level (P<.01). Initial routine search failed to discover 4 malignancies, 3 of which were discovered at an advanced stage by more extensive investigations. The positive result yield of blind malignancy search was only 13% (11 of 87), but reached 28% (5 of 18) for blind abdominal-pelvic and thoracic computed tomographic scans.
CONCLUSION: Extensive search for malignancy, particularly computed tomographic scans, may be warranted in at least a subset of patients with DM or PM and risk factors of malignancy.
MELANOMA
J Am Acad Dermatol. 2006 Feb;54(2):221-6. Abstract quote
BACKGROUND: Dermatomyositis (DM) is an inflammatory connective tissue disorder well recognized as a paraneoplastic syndrome in adults.
OBJECTIVE: The objective of this study was to assess the prognosis of DM associated with malignant melanoma (MM).
PATIENTS AND METHODS: We systematically searched databases (PubMed, MEDLINE, and WEB OF SCIENCE) for articles reporting the concurrence of DM and MM. For the literature study, time of onset of DM in relation to diagnosis of MM (before, concomitant with, or after), stage of MM after restaging (according to the American Joint Committee on Cancer [AJCC] guidelines, 2001), and survival time after diagnosis of DM were recorded. Survival time studies and univariate statistical analyses were performed. Furthermore, we present our own clinical case of a patient with DM concomitantly occurring with regional lymph node metastasis of MM.
RESULTS: In 5 cases DM occurred before, in 6 cases concomitantly with, and in 6 cases after progression of MM. Univariate analysis identified the AJCC stage of MM as a significant prognostic factor. Gender, age, and the time interval between onset of DM and progression of melanoma were unrelated. The 1-year actuarial survival rate was 0% for patients with DM when occurring with MM at stage IV and 60% when occurring with MM at stage III (P < .05). The estimated mean survival time was 6.6 months for patients with MM stage IV and 57 months for stage III.
LIMITATIONS: The conclusions from this study are limited by the relatively small number of articles that reported the association of MM and DM.
CONCLUSION: DM occurring in patients with MM at stage IV is connected with an extremely poor prognosis, whereas the few reported patients with DM and MM at stage III, including our case, have a prognosis similar to stage III patients without DM.SCLEROMYXEDEMA Scleromyxedema (lichen myxedematosus) associated with dermatomyositis.
Launay D, Hatron PY, Delaporte E, Hachulla E, Devulder B, Piette F.
Department of Internal Medicine, Claude Huriez Hospital, 1, place de Verdun, 59037 Lille Cedex. France.
Br J Dermatol 2001 Feb;144(2):359-62 Abstract quote
A 41-year-old white man is described with papules of the lower and upper back, the neck and the upper chest, a marked deposition of mucin in the upper reticular dermis, and an IgG lambda monoclonal gammopathy strongly evocative of scleromyxedema (lichen myxedematosus). Additionally, he developed intense myalgia, muscle weakness and rhabdomyolysis, which were associated with heliotrope erythema, photosensitivity and an erythematous rash of the dorsum of the hands with Gottron's papules. Muscle biopsy revealed an inflammatory myositis, and dermatomyositis was diagnosed.
The association of dermatomyositis and secondary mucinosis, or muscle involvement in primary papular mucinosis are not rare. However, the association between scleromyxedema and dermatomyositis has only exceptionally been reported.
TERBINAFINE
Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University, New York, NY, USA.
Dermatomyositis, a connective tissue disease syndrome where antibodies to the endothelium of the microvasculature of the skin, muscle and lung are implicated in lesional propagation, is characterized by photodistributed erythema, heliotrope rash, Gottron's papules, muscle weakness and interstitial pulmonary fibrosis. Endotheliotropic viruses and underlying neoplasia are among the inciting triggers. Uncommon drugs, namely the lipid-lowering agents, have been implicated in dermatomyositis.
The patient, a 57-year-old man, developed a photodistributed rash and muscle weakness following treatment with the antifungal medication, terbinafine. A skin biopsy was performed, showing an atrophying interface dermatitis with pandermal mucinosis and striking vasculopathic changes including endothelial cell necrosis with denudement and basement membrane zone reduplication. Ultrastructural studies confirmed the presence of endothelial cell injury.
Direct immunofluorescent testing showed prominent staining of C5b-9 along the dermal-epidermal junction and within the vasculature. Western blot studies showed strong seroreactivity of his serum to an endothelial-based protein weighing 45,000, a common target described in other microvascular injury-based syndromes.
We have shown a temporal association between use of terbinafine and the development of dermatomyositis. The exact basis remains speculative. One potential hypothesis is based on the fact that terbinafine, the active agent in terbinafine, triggers apoptosis of human endothelial cells in culture. Enhanced endothelial cell apoptosis results in the displacement of various cellular antigens creating a state of neoantigenicity; its attendant sequelae is held to be one of anti-endothelial cell antibody formation, a defining pathogenetic event in the evolution of dermatomyositis. The second may be because of the effects of the drug on the promotion of an interferon-rich T-helper-1-dominant cytokine milieu.VASCULITIS Central nervous system vasculitis as a complication of refractory dermatomyositis.
Regan M, Haque U, Pomper M, Pardo C, Stone J.
Department of Medicine, Johns Hopkins University Vasculitis Center, Baltimore, Maryland 21205, USA.
J Rheumatol 2001 Jan;28(1):207-11 Abstract quote
We describe a 47-year-old woman with refractory dermatomyositis (DM) who developed progressive cognitive dysfunction. Magnetic resonance imaging showed a large cerebral infarction, and the diagnosis of central nervous system (CNS) vasculitis was confirmed by both angiogram and brain biopsy.
Her DM and CNS vasculitis responded promptly to the institution of daily cyclophosphamide, and her previously refractory disease entered remission.
GROSS APPEARANCE/
CLINICAL VARIANTSCHARACTERIZATION GENERAL Curr Opin Rheumatol 1999;11:475-482 Adult-onset Classic DM
Classic DM with malignancy
Classic DM as part of an overlapping connective tissue disorderClinically amyopathic DM
Clinically hypomyopathic DMJuvenile-onset Classic DM
Clinically amyopathic DM
Clinically hypomyopathic DMPolymyositis Isolated polymyositis
Polymyositis as part of an overlapping connective tissue disorder
Polymyositis associated with internal malignancy (?)Inclusion body myositis VARIANTS AMYOPATHIC (DERMATOMYOSITIS SINE MYOSITIS)
- A systematic review of adult-onset clinically amyopathic dermatomyositis (dermatomyositis sine myositis): a missing link within the spectrum of the idiopathic inflammatory myopathies.
Gerami P, Schope JM, McDonald L, Walling HW, Sontheimer RD.
Dermatopathology Division, University of Chicago, Chicago, Illinois, USA.
J Am Acad Dermatol. 2006 Apr;54(4):597-613. Epub 2006 Jan 23. Abstract quote
OBJECTIVE: Classical dermatomyositis (CDM) patients display the hallmark cutaneous manifestations of dermatomyositis (DM), proximal muscle weakness, and laboratory evidence of myositis. The epidemiology and management of both adult-onset and juvenile-onset CDM has been well characterized. However, the clinical significance of the hallmark inflammatory cutaneous manifestations of DM occurring in individuals who have no clinically significant muscle weakness and normal muscle enzymes for prolonged periods of time (ie, 6 months or longer) has not been clear. The term amyopathic DM (ADM) (synonymous with DM sine myositis) has been proposed to draw attention to such individuals. A related form of DM, "hypomyopathic DM" [HDM], is the presence of DM skin disease for 6 months or longer in individuals who have no muscle weakness but who are found to have some evidence of muscle inflammation upon testing (muscle enzyme levels, electromyogram, muscle biopsy, muscle magnetic resonance imaging [MRI]). Clinically amyopathic DM (CADM) is a designation that has been proposed for patients having either ADM or HDM. The clinically amyopathic component of this designation was coined to emphasize the fact that the only clinical problem being experienced by these patients at the time of diagnosis is their DM skin disease. Our personal experience suggests that the CADM subphenotype might be more prevalent in adults than has been thought previously. To test this hypothesis and address questions relating to the optimal management and prognosis of such patients, we have systematically reviewed the published literature in this area.
METHODS: We carried out a systematic review of the published literature on adult-onset CADM as defined in Table 1 through May 1, 2004.
RESULTS: We identified 291 adult-onset CADM cases (18 years or older) reported from over 19 countries. The average duration of DM skin disease was 3.74 years (range, 6 months [by definition] to > 20 years), and 73% were female. Among 37 patients with HDM who were identified, the average duration of disease was 5.4 years, and none had developed clinically significant weakness at the time of the reports. Thirty-seven of the reported CADM patients developed muscle weakness greater than 6 months after onset of their skin disease (15 months to 6 years). For the sake of this discussion, such patients have been analyzed under the designation of "CADM --> CDM." Somewhat surprisingly, 36/291 (13%) of the identified published CADM patients developed interstitial lung disease. Incidental to our review, we also identified 10 published cases of individuals having DM skin disease and interstitial lung disease without muscle weakness, 7 of whom died from interstitial lung disease less than 6 months after onset of their DM skin disease (the term pre-myopathic DM coined by others has been used here to refer to such patients). In addition, an associated internal malignancy was found in 41/291 (14%) of the identified CADM cases. A positive antinuclear antibody was reported in 63% and myositis-specific autoantibodies (eg, Jo-1, Mi-2) in only 3.5% of the reported CADM patients in which such data were available.
CONCLUSIONS: The results of this analysis suggests that the CADM subphenotype is more common than has been thought previously and that such patients may comprise a relatively high proportion of DM patients followed by dermatologists. Some CADM patients also have been observed to develop overt proximal muscle weakness years after onset of their DM skin disease. In addition, CADM patients appear to be at risk of developing the same potentially fatal disease associations/complications for which CDM patients are at risk (eg, interstitial lung disease and internal malignancy). Population-based studies of the epidemiology and optimal management of CADM patients, including efforts to identify risk factors associated with potentially fatal outcomes such as late-onset muscle weakness, interstitial lung disease, and malignancy, are needed. As an incidental finding to this literature review, we also identified a small number of reported cases of often-fatal interstitial lung disease occurring shortly after the onset of DM skin disease (< 6 months) in the complete absence of muscle weakness. This subphenotype, referred to as "pre-myopathic DM," is one with which dermatologists should be aware as early diagnosis and aggressive management can be lifesaving.Amyopathic dermatomyositis (dermatomyositis sine myositis). Presentation of six new cases and review of the literature.
Euwer RL, Sontheimer RD.
Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, TX 75235.
J Am Acad Dermatol 1991 Jun;24(6 Pt 1):959-66 Abstract quote
We report six patients with the classic cutaneous findings of dermatomyositis who did not develop clinical or laboratory evidence of muscle disease for at least 2 years after onset of their skin manifestations.
Such patients represent 11% of our total experience with dermatomyositis patients during a 15 year period. All six patients had Gottron's paules, periungual erythema/telangiectasia, and violaceous discoloration of the face, neck, upper chest, and back at some time during the course of their disease. In addition, all complained of pruritus and photosensitivity. None of the patients had evidence of malignancy. Each of five patients treated with oral corticosteroids for their cutaneous disease had marked improvement and did not develop myositis.
These cases further emphasize that the cutaneous manifestations of dermatomyositis are pathognomonic of this disease and challenge the commonly held notion that muscle disease always develops within 2 years of onset of skin disease.
Juvenile amyopathic dermatomyositis.
Schmid MH, Trueb RM.
Department of Dermatology, University Hospital of Zurich, Switzerland.
Br J Dermatol 1997 Mar;136(3):431-3 Abstract quote
We report a 15-year-old girl with a 10-year-old history of typical skin features of dermatomyositis (DM) without evidence of muscle involvement.
Amyopathic dermatomyositis (ADM) is defined by the presence of biopsy confirmed classic cutaneous findings of dermatomyositis in the absence of any clinical or laboratory signs of muscle disease for at least 2 years after onset of skin pathology. To exclude muscle involvement muscle enzymes should be normal; moreover additional use of magnetic resonance imaging and muscle ultrasound is currently being proposed. It is as yet undetermined, whether early aggressive immunosuppressive treatment of ADM might prevent the development of myositis at a later date or influence the course of the skin disease.
In a paediatric patient with ADM we advocate a more expectant attitude with careful and regular monitoring for possible development of muscle disease.
Juvenile amyopathic dermatomyositis: results of a case finding descriptive survey.
Plamondon S, Dent PB.
Department of Pediatrics, McMaster University, Children's Hospital, Hamilton Health Sciences Corporation, Ontario, Canada.
J Rheumatol 2000 Aug;27(8):2031-4 Abstract quote
OBJECTIVE: To review the clinical features of juvenile amyopathic dermatomyositis (ADM) to define an appropriate approach to its diagnosis and management.
METHODS: Based on a review of published adult and pediatric cases, a prevalidated, peer reviewed, 3 page questionnaire was sent to all members of the Pediatric Section of the American College of Rheumatology and American Society for Pediatric Dermatology.
RESULTS: Thirty-nine questionnaires were submitted for analysis. Twelve cases were excluded due to abnormal test results. Only one case met all criteria. Although 26 cases were incompletely investigated or had inadequate followup, they were not excluded, as all completed tests were normal. Two patients with incomplete data developed calcinosis. Of 27 patients not positively excluded, 10 were treated systemically, with 5 achieving remission, while 11/17 untreated recovered spontaneously. At a mean followup of 32.8 months from disease onset none of the 27 patients has developed clinical myopathy.
CONCLUSION: The classic skin changes of juvenile DM can occur in the absence of clinical muscle involvement. Physicians are not routinely performing electromyography, muscle biopsy, or magnetic resonance imaging in the assessment of these patients. A significant proportion of patients with ADM will remit without systemic therapy. Optimum treatment needs to be determined through controlled trials.
Amyopathic dermatomyositis.
Olsen NJ, Park JH, King LE.
Division of Rheumatology, Department of Medicine, Vanderbilt University, T-3219 Medical Center North, Nashville, TN 37232, USA.
Curr Rheumatol Rep 2001 Aug;3(4):346-51 Abstract quote
Amyopathic dermatomyositis is a variant of dermatomyositis that is characterized by the typical skin rash but without the muscle abnormalities.
It has been proposed that the amyopathic and myopathic forms of dermatomyositis exist on a continuum, a concept that is supported by family and genetic studies and the observation that a small proportion of amyopathic patients transform to a frankly myopathic state. The amyopathic state is defined by a lack of muscle weakness and through diagnostic tests, including serum muscle enzymes, electromyogram studies, and muscle biopsies, that are usually normal or show only minimal abnormalities. Despite the lack of weakness, many patients complain of debilitating fatigue. More sensitive measures of muscle function, such as P-31 magnetic resonance spectroscopy, suggest that muscle metabolism is abnormal in amyopathic patients. The amyopathic form is more commonly seen in adults than in children, although juvenile cases are reported. Some early series suggested no association with underlying malignancies, but recent reports indicate that malignancies occur.
Determining whether a patient has amyopathic rather than myopathic disease may have prognostic implications.
Amyopathic Dermatomyositis A Review by the Italian Group of Immunodermatology
Marzia Caproni, MD; Carla Cardinali, MD; Aurora Parodi, MD; Barbara Giomi, MD; Manuela Papini, MD; Mario Vaccaro, MD; Angelo Marzano, MD; Clara De Simone, MD; Marcello Fazio, MD; Alfredo Rebora, MD; Paolo Fabbri, MD
Arch Dermatol. 2002;138:23-27 Abstract quote
Objective To analyze the average age, sex distribution, duration of follow-up, clinical course, serologic abnormalities, and incidence of possibly associated malignancy in patients with amyopathic dermatomyositis.
Design Retrospective study.
Setting University hospitals.
Patients Thirteen patients with amyopathic dermatomyositis.
Results The 13 patients represented 8.2% of 157 patients with dermatomyositis seen retrospectively in a 10-year period by the Italian Group of Immunodermatology of the Italian Society of Dermatology and Venereology. Gottron papules and sign and periungual telangiectasias were found in approximately 50% of cases (papules in 7 patients, Gottron sign and periungual telangiectasias in 6), while periorbital violaceous erythema was seen in 70% (9 patients). Arthralgias occurred in 2 patients and Raynaud phenomenon in 4. An elevated erythrocyte sedimentation rate was detected in 6 patients, hepatitis B virus antigen in 3, speckled antinuclear antibodies in 7, and anti-Ro and antimitochondrial antibodies in 1 case each. None of our patients had evidence of internal malignancy. Neither cardiopulmonary nor esophageal dysfunction was demonstrated. Electromyography showed a protopathic muscle abnormality in 3 patients. Muscle biopsy disclosed myositis and a neurogenic myopathy in another one.
Conclusions Amyopathic dermatomyositis is a rare disease. So far, only 2 series of a few cases each have been reported. The "amyopathic" subset of dermatomyositis is peculiar in that its cutaneous lesions are predominant for long periods or even permanently, although they are indistinguishable from those of classic dermatomyositis. The minimal or absent muscle disease and the rarity of serum immunologic findings imply a favorable prognosis in white patients.
Amyopathic dermatomyositis: Retrospective review of 37 cases.el-Azhary RA, Pakzad SY.
Department of Dermatology, Mayo Clinic, Rochester.
J Am Acad Dermatol 2002 Apr;46(4):560-5 Abstract quote Criteria for diagnosis of amyopathic dermatomyositis vary, and the prognosis is not clear. Our purpose was to investigate prognosis regarding progression to myositis and associated malignancy.
We reviewed the medical records of patients with dermatomyositis evaluated at our institution from 1976 to 1994. Of 746 patients with dermatomyositis, 37 (5%) with the amyopathic subtype were divided into 3 groups: group 1 (73%), no subjective or objective evidence of myopathy; group 2 (13%), no subjective muscle weakness but abnormalities detected by objective tests; group 3 (13%), subjective muscle weakness but no objective evidence of myopathy. Follow-up was conducted by means of a mailed questionnaire. For 25 patients, follow-up of 1 to 17 years after diagnosis showed muscle weakness in 2 patients in group 1 within 5 years after diagnosis. Five patients (13%) had associated malignancies. Of 7 (19%) patients with disease onset before the age of 18 years, none had progression to myopathy.
Although it presents with cutaneous lesions indistinguishable from those of classic dermatomyositis, amyopathic dermatomyositis is a distinct entity. In most patients, amyopathic dermatomyositis does not progress to myopathy. Prognosis appears favorable, but malignancy may develop.
INCLUSION BODY MYOSITIS Inclusion body myositis: clinical and histopathological features of 36 patients.
Beyenburg S, Zierz S, Jerusalem F.
Neurologische Universitatsklinik Bonn.
Clin Investig 1993 May;71(5):351-61 Abstract quote
Thirty-six patients (15 females, 21 males) with inclusion body myositis (IBM) were studied.
The diagnosis was established according to clinical and histopathological criteria. Clinical features were insidious onset of slowly progressive muscle weakness and wasting with depressed or absent tendon reflexes especially in the lower limbs. The pattern of muscle weakness was variable. The majority of patients (58%) showed proximal and symmetrical weakness usually most prominent in the legs. Isolated distal (6%) and asymmetrical weakness (19%) was less frequently observed. Myalgia occurred in 42% of the patients. The age at onset of symptoms ranged from 20 to 73 years (mean 47 years). Serum creatine kinase levels were normal (11%) or mildly elevated (89%). Needle electromyography revealed myopathic features in about 80% of the patients, and results of nerve conduction studies were normal in most of the cases. The predominant histopathological findings were numerous muscle fibers with rimmed vacuoles (100% of the patients), groups of atrophic fibers (92%), and inflammatory infiltrates (89%). The inflammatory infiltrates were located predominantly at endomysial sites and were composed mainly of T8 cells. Electron microscopy showed characteristic intracytoplasmic filamentous inclusions in all 36 cases. Immunosuppressive treatment in 16 patients failed to prevent disease progression in all but one patient with an associated Sjogren's syndrome.
It is concluded that the consistent combination of typical histopathological findings and characteristic clinical features offers a firm basis for the diagnosis of IBM. IBM should be suspected in any adult patient presenting with clinical signs of a chronic polymyositis unresponsive to immunosuppressive therapy. The etiology and pathogenesis of IBM remain to be established.
JUVENILE Usually greater incidence of multiorgan disease with rarely a necrotizing vasculitis
Calcification within skeletal muscle commonJuvenile dermatomyositis: a retrospective review of a 30-year experience.
Peloro TM, Miller OF 3rd, Hahn TF, Newman ED.
Department of Dermatology, Geisinger Health System, Danville, Pennsylvania, USA.
J Am Acad Dermatol 2001 Jul;45(1):28-34 Abstract quote
OBJECTIVE: Our purpose was to evaluate the epidemiology trends, presenting clinical features, laboratory data, and outcome of patients with JDMS.
METHODS: A total of 16 patients were identified at Geisinger Medical Center by a 30-year retrospective chart review.
RESULTS: Sex ratio, age at diagnosis, and outcome were similar to data published in previous studies. However, certain trends were noted. The most common initial physical examination findings were an extremity rash (94%) and periungual erythema (75%). New associations of JDMS that were uncovered included the findings of pruritus (38%) and a psoriasiform scalp dermatitis (25%). Nonspecific laboratory elevations were the most common initial laboratory changes (erythrocyte sedimentation rate, lactate dehydrogenase, and aspartate aminotransferase). Tubuloreticular inclusions as found on electron microscopy of muscle biopsy specimens were present in all 3 patients tested. One patient with tubuloreticular inclusions had otherwise normal muscle biopsy findings on hematoxylin-and-eosin staining. Two of the 16 patients had cutaneous findings of JDMS but did not exhibit muscle involvement after long-term follow-up at 4 and 5 years.
CONCLUSION: Our study confirms that the initial physical and laboratory findings in patients with JDMS may be nonspecific. The heliotrope rash and Gottron papules classically associated with dermatomyositis appeared less commonly than an extremity rash and periungual erythema. Creatinine kinase and aldolase levels may not be elevated on initial presentation. Pruritus, a psoriasiform scalp dermatitis, and tubuloreticular inclusions found on muscle biopsy electron microscopy should be additional factors to consider. The long-term follow-up in 2 patients without muscle involvement lends support to the existence of amyopathic dermatomyositis.
Lipodystrophy in patients with juvenile dermatomyositis--evaluation of clinical and metabolic abnormalities.
Huemer C, Kitson H, Malleson PN, Sanderson S, Huemer M, Cabral DA, Chanoine JP, Petty RE.
Department of Pediatrics, University of British Columbia, Vancouver, Canada.
J Rheumatol 2001 Mar;28(3):610-5 Abstract quote
OBJECTIVE: Lipodystrophy and associated metabolic abnormalities are being increasingly recognized as complications of juvenile dermatomyositis (JDM). We investigated the prevalence of lipodystrophy and the extent of metabolic abnormalities related to lipoatrophic diabetes mellitus in patients with JDM.
METHODS: Twenty patients with JDM were evaluated for evidence of lipodystrophy and associated lipoatrophic diabetes mellitus. All patients underwent clinical assessment, laboratory investigations, and metabolic studies (oral glucose tolerance test, lipid studies, insulin antibodies).
RESULTS: We found clinical evidence of lipodystrophy and lipoatrophic diabetes mellitus in 4 of 20 patients with JDM and metabolic abnormalities known to be associated with lipodystrophy in another 8 patients. The 20 patients with JDM were categorized as follows: Group 1 (Patients 1-4) consisted of patients with lipodystrophy and either diabetes mellitus (2 patients) or impaired glucose tolerance (2 patients); Group 2 (Patients 5-12): no lipodystrophy but abnormal glucose and/or lipid studies; Group 3 (Patients 13-20): no lipodystrophy and no abnormalities of glucose and lipid studies.
CONCLUSION: We found 25% of patients with JDM have lipodystrophy, and 50% present with hypertriglyceridemia and insulin resistance. Screening for metabolic abnormalities in JDM should be included in routine followup because of the effect of lipodystrophy on longterm prognosis.
PITYRIASIS RUBRA PILARIS-LIKE SKIN RASH (WONG TYPE)
Dermatomyositis with a pityriasis rubra pilaris-like eruption: a little-known distinctive cutaneous manifestation of dermatomyositis.Requena L, Grilli R, Soriano L, Escalonilla P, Farina C, Martin L.
Department of Dermatology, Fundacion Jimenez Diaz, Universidad Autonoma, Madrid, Spain.
Br J Dermatol 1997 May;136(5):768-71 Abstract quote A pityriasis rubra pilaris-like eruption has been described in patients with dermatomyositis. These patients showed generalized follicular hyperkeratosis and diffuse thickening of the palms and soles. Histopathological findings consisted of keratotic plugging of the follicular infundibulum and features of erector pili myositis.
We report on an 18-year-old woman with dermatomyositis. The diagnosis was established by characteristic enzymatic alterations, electromyographic pattern of myositis and the findings in a muscle biopsy, although the patient had no evidence of muscular weakness during a follow-up of 14 years. She developed an erythematosus and squamous eruption associated with diffuse palmoplantar keratoderma.
Histopathological features consisted of a papillomatous epidermis with spicules of compact eosinophilic hyperkeratosis over the tips of papillae that were not related to hair follicles. Pityriasis rubra pilaris-like eruption seems to be a characteristic although uncommon cutaneous manifestation in dermatomyositis.
An unusual presentation of dermatomyositis: the type Wong variant revisited.Lupton JR, Figueroa P, Berberian BJ, Sulica VI.
The George Washington University Medical Center, 2311 M St. NW, Washington, DC 20037, USA.
J Am Acad Dermatol 2000 Nov;43(5 Pt 2):908-12 Abstract quote We describe a 53-year-old white woman with dermatomyositis (DM) who had additional clinical findings of pityriasis rubra pilaris (type Wong dermatomyositis) with histopathologic features of both pityriasis rubra pilaris (PRP) and porokeratosis.
Type Wong dermatomyositis was originally described in 11 patients by Wong in 1969 and has been reported in 5 additional patients. This is a rarely described phenomenon in which patients with DM develop cutaneous hyperkeratotic lesions that resemble PRP and histologically show follicular hyperkeratosis and hair follicle destruction. Arrector pilorum muscles also show degenerative findings and myositis.
We believe that this is the first reported case of a patient with type Wong DM who also has clinical and histologic features suggestive of porokeratosis. This is important because of the association of adult-onset dermatomyositis with internal malignancy and the well-documented association of porokeratosis with immunosuppression. These clinical and histologic findings serve as markers for malignancy in patients with DM. These patients warrant a complete review of systems and investigation for age-appropriate neoplasms as well as close long-term follow-up by dermatologists to ensure that these cutaneous eruptions are not overlooked.
HISTOPATHOLOGY CHARACTERIZATION GENERAL
Department of Dermatology, Wake Forest University Baptist Medical Center, Winston-Salem, NC 27157, USA.
The histopathology of cutaneous lesions of dermatomyositis (DM) may be indistinguishable from acute cutaneous lesions of systemic lupus erythematosus (SLE). Misreported or incomplete clinical information may result in a clinicopathologic discrepancy and a delay in making a correct diagnosis of DM.
The aim of this study was to systematically characterize the histopathologic findings of cutaneous lesions of DM and to determine if skin biopsy specimens of DM and SLE could be distinguished by light microscopic examination. Biopsies from 40 patients diagnosed with DM at the Wake Forest University School of Medicine from 1994 to 1999 were reviewed. The histological features by light microscopy were graded in a systematic fashion. We then assessed whether the cutaneous pathological changes of DM could be distinguished from those of SLE. Ten biopsy specimens each of DM and SLE (matched for anatomical site and lesion morphology) were randomized.
Histological grading was performed in a blinded fashion, as was a histopathologic diagnosis (DM versus SLE). The most consistent histological findings of DM included increased dermal mucin, vacuolar alteration of the basal cell layer, and mild-to-moderate mononuclear cell inflammatory infiltrates.
Our results show that the histological grading of SLE skin biopsies was nearly identical to that of DM. The correct histopathologic diagnosis of DM or SLE was made in 11 of the 20 skin biopsies without clinical information.
Despite the limitations of our small sample size, these findings suggest that acute cutaneous lesions of SLE cannot be distinguished from DM. Clinicopathologic correlation is important for making a diagnosis of DM or SLE.FIBROSIS
Department of Pathology, New York Presbyterian Hospital/Weill Medical College of Cornell University, New York, NY, USA.
Background: Dermatomyositis (DM) is a distinctive systemic connective tissue disease whereby the skin defines a cardinal site of involvement. There exists a body of literature, which suggests that a significant component of its clinical manifestations may be related to endothelial cell injury. We have postulated in the past that anti-endothelial cell antibodies may be the defining trigger leading to endothelial cell dysfunction. The primary organs affected by DM are the skin and muscle. A significant albeit rare complication is pulmonary fibrosis, which our recent study postulated to be attributable to an autoimmune endothelialitis.
Design: We describe six patients, four women and two men who ranged in age from 3 to 60 years, and had classic clinical presentations and cutaneous lesions of DM without any supervening clinical changes indicative of cutaneous sclerosis.
Results: Skin biopsies showed cell-poor interface dermatitis with variable dermal mucin and C5b-9 within the cutaneous vasculature. However, at variance with classic DM was the presence of a sclerodermoid tissue reaction, which was of variable depth. All of these patients had severe muscle involvement. One pediatric patient had concomitant significant cutaneous, central nervous system and oral mucosal ischemic infarcts. Significant pulmonary disease ensued in the four adult patients, manifesting as pulmonary fibrosis in two, diffuse alveolar damage in one and diaphragmatic failure in one. In three patients, direct immunofluorescent studies were corroborative of immune-based microvascular injury while Western blot and/or indirect immunofluorescent studies showed anti-endothelial cell antibody activity within the serum of three patients.
Conclusions: The identification of sclerosis in biopsies of skin lesions typical clinically for DM may be a harbinger for more severe autoimmune-based endothelial cell injury phenomenon. One could speculate that its basis may be attributable to elevated serum levels of the natural fibrogenic factor, transforming growth factor beta, which in turn is released from damaged endothelium.GOTTRON'S PAPULES
UMASS Medical School, 55 Lake Avenue North, Worcester, MA, USA.
Dermatomyositis (DM) is an uncommon connective tissue disease that presents with a characteristic violaceous skin eruption as well as proximal muscle weakness, primarily of the upper extremities. Cutaneous stigmata of DM include Gottron's papules, similarly colored papules and plaques overlying the extensor surfaces of finger joints. While biopsy of the typical poikilodermatous skin eruption found in patients with suspected DM is a standard algorithmic component in the workup and diagnosis of the disease, Gottron's papules are rarely sampled for histopathologic assessment. The precise reason for this is not known but may be related to problems associated with healing because of constant motion forces in the vicinity of the joint. Given this, sparse literature is available on the histopathologic features of Gottron's papules.
In this study, we present two cases in which the presence of papular (Gottron's papules) lesions on the fingers led to a presumptive diagnosis of DM and prompted biopsies of the same. The study illustrates the diagnostic utility of biopsies from Gottron's papules.MUCINOSIS Dermatomyositis and mucinosis.
del Pozo J, Almagro M, Martinez W, Yebra-Pimentel MT, Garcia-Silva J, Pena-Penabad C, Fonseca E.
Departments of Dermatology and Pathology, Hospital Juan Canalejo, La Coruna, Spain.
Int J Dermatol 2001 Feb;40(2):120-4 Abstract quote
BACKGROUND: Mucin deposition is a common feature in autoimmune collagen diseases including dermatomyositis. Nevertheless, clinical manifestations of mucinosis are uncommon in patients with dermatomyositis. Two cases of mucinosis associated with dermatomyositis are reported.
PATIENTS: A 53-year-old woman presented with symmetrical plaques on the upper limbs formed by the coalescence of small, violaceous papules. In addition, she showed the typical cutaneous and muscle features of dermatomyositis. A 44-year-old woman with dermatomyositis of 5 years' evolution developed linear, flesh-colored papules across the flexural creases of her palms and fingers.
RESULTS: Skin biopsy of the upper limb lesions in the first patient showed epidermal changes compatible with dermatomyositis and dermal mucin deposition. Histopathologic examination of the palmar lesions of the second patient showed less intense epidermal changes of dermatomyositis and dermal mucin deposition.
CONCLUSIONS: Mucin deposition in patients with dermatomyositis may have an unusual clinical presentation, and it should be considered in the differential diagnosis of atypical cutaneous lesions in these patients.
VASCULITIS Cutaneous vasculitis in a patient with dermatomyositis without muscle involvement.
Kadoya A, Akahoshi T, Sekiyama N, Hosaka S, Kondo H.
Department of Internal Medicine, Kitasato University, School of Medicine, Sagamihara.
Intern Med 1994 Dec;33(12):809-12 Abstract quote
A 74-year-old female patient with cutaneous ulcerations and typical dermatomyositis (DM) skin rash had no muscle disease for a 1-year and 5 months period.
Histological examination of the skin ulceration indicated vascular occlusion without cellular infiltration.
Cutaneous ulceration is a very rare manifestation of adult-onset DM patients without inflammatory myopathy.
Cutaneous leukocytoclastic vasculitis in dermatomyositis suggests malignancy.
Hunger RE, Durr C, Brand CU.
Dermatological Clinic, Inselspital, University of Berne, Switzerland.
Dermatology 2001;202(2):123-6 Abstract quote
BACKGROUND: Dermatomyositis (DM) is a rare connective tissue disease which has been shown to be associated with an underlying malignancy.
OBJECTIVE: Evaluation of the prevalence of malignancy in DM at our clinic and search for characteristics of the paraneoplastic form of disease.
METHODS: Retrospective review of patient files and histology reports over the period from 1991 to 1998.
RESULTS: 23 patients (14 women and 9 men) with DM could be identified in this time period with a median age at diagnosis of 48 years. Malignancies were found in 5 (22%) cases. The skin biopsies of all patients showed features of DM; in 7 cases, a leukocytoclastic vasculitis was detected. Four of the 5 cases with an associated malignancy demonstrated histologically a vasculitis in lesional skin, compared to only 3 out of 18 cases without malignancy (p < 0.05, Fisher's exact test).
CONCLUSION: Our data suggest that vasculitis in lesional skin biopsies has a predictive value for the presence of underlying malignancy.
MUSCLE Quantitative histopathology of the inflammatory myopathies.
Ringel SP, Carry MR, Aguilera AJ, Starcevich JM.
Arch Neurol 1986 Oct;43(10):1004-9 Abstract quote
This study quantitatively assessed skeletal muscle histopathology in 57 patients with inflammatory myopathy, including 20 patients with polymyositis (PM), 19 patients with dermatomyositis (DM), and 18 patients with evidence of an additional connective-tissue disease. No histologic criteria for invariably distinguishing patients with inflammatory myopathy were established because of overlap in individual measurements, but general histopathologic distinctions were confirmed. In PM, endomysial mononuclear cell infiltration (fibers bordering on inflammation) was usual, whereas in DM inflammation of large vessels, fibers with circumscribed areas of myofibrillar loss, and perifascicular atrophy were seen. Patients with evidence of an additional connective-tissue disease were most similar to the DM patients, with a greater prevalence of perivascular inflammation than in the PM patients.
Because of varying histopathology (and presumed varying pathogenesis), future therapeutic trials would be more informative if they were designed using patients with homogeneous histologic features.
Gottron's papules-Atrophic papules and plaques over the knuckles.
Heliotrope rash-Purplish discoloration and edema of the periorbital tissues.
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