Dermatologische Differentialdiagnosen von idiopathischen entzündlichen Muskelerkrankungen

ZusammenfassungDie Hautsymptome sind für die Differenzialdiagnose der Myositiden wichtig, da sie einmal entscheidend für die Unterscheidung der Dermatomyositis und des Anti-Synthetase-Syndroms von den anderen Autoimmun-Myositiden sind, und da sie bei Myositiden im Rahmen von Overlap Syndromen Hinweise auf die zugrunde liegenden Autoimmunerkrankungen (Lupus erythematodes, systemische Sklerose u. a.) geben können. Daher sollte bei Patienten mit einer Myositis eine genaue Inspektion der Haut erfolgen. Fast pathognomonisch für die Dermatomyositis ist die Trias aus symmetrischem, fliederfarbenem Erythem auf den Oberlidern (heliotropes Erythem), Erytheme oder flache Papeln oder Plaques über den proximalen interphalangealen und metacarpophalangealen Fingergelenken (so genannte Gottron Papeln) und Erytheme über Knien, Ellenbogen oder Knöcheln (so genanntes Gottron Zeichen). Daneben gibt es eine Reihe weiterer, typischer Hautsymptome (peitschenabdruckartige Erytheme, Poikilodermie, dystrophe Nagelhäutchen, Vaskulitiden, Juckreiz). Beim Anti-Synthetase-Syndrom treten neben einem Raynaud Phänomen als charakteristisches Symptom die sog. Mechanikerhände („mechanic‘s hands“) auf, d. h. Hyperkeratosen und Fissuren lateral an den Fingern. Klinisch und histologisch sind die Hautsymptome beim LE nicht eindeutig von denen der Dermatomyositis zu trennen, auch wenn es einige Unterschiede gibt. Die Hauteffloreszenzen sprechen nicht immer gut auf die Therapien der Myositis an. Ein Rückgang wurde unter Glukokortikoiden, Methotrexat, IVIG, Mycophenolatmofetil und Rituximab beobachtet. Als systemische Therapie gegen die Hautbeteiligung hat Hydroxychloroquin Wirksamkeit gezeigt, manchmal nur in Kombination mit Mepacrin. Zur zusätzlichen topischen Behandlung eignen sich Glukokortikoide und Calcineurin-Inhibitoren. Eine generelle Maßnahme ist der konsequente Sonnenschutz.

Mechanic’s hand; is it a prodromic sign of disease relapse of anti-synthetase syndrome; a case report

Background Anti-synthetase syndrome is the collection of myositis and/or interstitial lung disease with the presence of various antibodies directed against an aminoacyl transfer RNA synthetase. Anti Jo − 1 antibody is the commonest of these antibodies and its presence is characteristically associated with the dermatological manifestation of mechanic’s hands. However, in the absence of other features, whether the presence of mechanic’s hands could be considered as a prodromic sign of disease relapse is not proven. We would like to present a patient who developed mechanic’s hands and subsequently went on to have recurrence in her myositis. Case presentation A 45-year-old female initially presented with a progressive proximal muscle weakness. Her muscle enzymes were elevated, EMG and biopsy were also in keeping with an inflammatory myositis. Subsequently she was found to have an interstitial lung disease with a non-specific interstitial pneumonitis pattern radiologically. Her anti Jo-1 was positive. However, she did not have any dermatological manifestations at the time. With immunosuppressive therapy she achieved remission which lasted for about 2 years. Then she developed fissuring and cracking of the palms and fingers suggestive of mechanic’s hands without any muscle pain, weakness and elevation of muscle enzymes. A few months later she did develop muscle pain, weakness and elevation of muscle enzymes heralding a disease relapse. Conclusion The presence of mechanic’s hands without other features should be considered as a prodromic sign of disease relapse.

Widespread Mechanic's Hands in Antisynthetase Syndrome With Anti-OJ Antibody

Mechanic's hand is a representative manifestation of antisynthetase syndrome (AS) but is observed in other forms of dermatomyositis1. This is a nonpruritic, hyperkeratotic, and scaly eruption on the ulnar side of the thumb and radial side of other fingers; occasionally the palms, fingertips, and feet are involved. However, a widespread type affecting the whole palm and fingers is extremely rare in anti-OJ antibody.

A case of macrophage activation syndrome in a patient with anti-synthetase syndrome

ABSTRACT Anti-synthetase syndrome (ASS) is an autoimmune disease characterized by autoantibodies against an aminoacyl transfer RNA synthetase with clinical features including interstitial lung disease, non-erosive arthritis, myositis, Raynaud’s phenomenon, unexplained fever and/or mechanic’s hands. Macrophage activation syndrome (MAS) is a potentially fatal hyper- inflammatory syndrome that can occur as a complication of systemic rheumatic diseases. However, the association of MAS and ASS has rarely been reported in the literature. Here, we report this association in a patient with overlap ASS and anti-CCP positive rheumatoid arthritis. First line management with steroids was complicated by diabetic ketoacidosis, hence requiring use of anti-IL1 therapy (anakinra) for disease control.

P032 Increased incidence of anti-synthetase syndrome during COVID-19 pandemic

Background/Aims Anti-synthetase syndrome is an idiopathic inflammatory muscle disease, characterised by anti-Jo1 antibodies. Clinical presentation varies between individuals. The diagnosis requires the detection of one or more anti-synthetase antibodies and one or more of the following clinical features: interstitial lung disease, myositis, and inflammatory polyarthritis. Other supporting features include fever, Raynaud’s phenomenon, and 'mechanic’s hands'. The severity and extent of pulmonary involvement typically determines prognosis. It is a rare disease, with estimated prevalence of 1.5 cases per 100,000. Our aim is to report an increase in the local prevalence, which coincides with the COVID-19 pandemic. Methods We retrospectively reviewed all new diagnoses of anti-synthetase syndrome made between March and July 2020 at the Royal Glamorgan Hospital. Results 3 new diagnoses of anti-synthetase syndrome were made during the study period. Based on the reported prevalence, we expect to see around 2 cases every 6-months in our hospital (which serves a population of around 300,000.) Anecdotally, the incidence has been much lower than this previously, and in the experience of three rheumatology consultants working at this hospital, only 6 diagnoses have been made over the last 15 years. This represents a 15-fold increase in the annual diagnosis rate. This anecdotal rise in the number of patients with anti-synthetase syndrome coincides with the COVID-19 pandemic. The incidence of COVID-19 in our health-board during this time period was 666 per 100,000. This is higher than the national incidence (486 per 100,000.) All three patients diagnosed with anti-synthetase syndrome had prominent symptoms of shortness of breath, hypoxia and presented on multiple occasions before the final diagnosis was made. Notably, all patients presented acutely unwell with severe symptoms, where ordinarily this diagnosis would be made in the outpatient setting. One case presented with a typical constellation of signs and symptoms. Specifically, progressive shortness of breath with evidence of bilateral interstitial pulmonary disease on imaging, myositis and anti-Jo1 positivity. The remaining two cases presented with primarily lung involvement. In both cases, chest imaging demonstrated extensive bilateral lower lobe pulmonary infiltrates, reported as being in-keeping with COVID-19. Despite repeated negative COVID-19 PCR results, the clinical impression was of probable COVID-19 infection. Following repeated presentations with worsening respiratory symptoms, specialist review was arranged, and ultimately anti-synthetase syndrome was diagnosed. With hindsight, one patient demonstrated extrapulmonary features of Raynaud’s phenomenon and 'mechanic’s hands'. All cases received methylprednisolone and mycophenolate. Conclusion We report an anecdotal local increase in the incidence of anti-synthetase syndrome, coinciding with the COVID-19 pandemic. The cases described demonstrate an overlap between the presenting clinical features of COVID-19 and anti-synthetase syndrome, and that due to high clinical suspicion of COVID-19 in the context of a global pandemic, some diagnoses of anti-synthetase syndrome may be being missed or delayed. Disclosure B. Phillips: None. J. Martin: None. C. Rhys-Dillon: None.

Palmar erythema and palmar papules as predictors for dermatomyositis-related acute/subacute interstitial lung disease: a retrospective study

Objectives Dermatomyositis (DM)-related acute/subacute interstitial lung disease (A/S-ILD) remains a big therapeutic challenge due to its insidious onset and rapid development. In the present study, we aimed to investigate the association between clinical features of DM and ILD. Methods We retrospectively assessed skin manifestations, muscle damage, laboratory tests, concurrent ILD and malignancy in 207 patients with DM and analyzed the high-risk factors for ILD. Results In the 207 DM patients, 153 patients had ILD, in which 131 had chronic ILD (CILD) and 22 had A/S-ILD. The proportions of mechanic’s hands, palmar papules and muscle weakness, as well as anti-melanoma differentiation-associated gene 5 (MDA5) antibody and lactic dehydrogenase (LDH), alanine aminotransferase (ALT) and ferritin in the ILD group were significantly higher compared with the non-ILD group. The onset age over 56 years, mechanic’s hands and muscle weakness were independent predictive factors for ILD. The proportions of palmar papules, palmar erythema, anti-MDA5 antibody, ALT, aspartate aminotransferase (AST), LDH and erythrocyte sedimentation rate in the A/S-ILD group were higher compared with the CILD group. Palmar erythema and palmar papules were independent predictive factors for A/S-ILD. Palmar papules were positively correlated with anti-MDA5 antibody. Conclusion The onset age over 56 years, mechanic’s hands or muscle weakness predicted the incidence of DM-related ILD, while palmar erythema or palmar papules could predict potential DM-related A/S-ILD.

The relevance of anti-Jo-1 autoantibodies in patients with definite dermatomyositis

Background To assess the prevalence and clinical relevance of anti-Jo-1 autoantibodies in a representative sample of patients with definite dermatomyositis (DM). Methods This retrospective cohort study took place from 2005 to 2020 and assessed 118 adult patients from a tertiary center who were diagnosed with definite DM. A commercial kit was used to detect anti-Jo-1 autoantibodies. Results The presence of anti-Jo-1 autoantibodies was observed in 10 out of 118 (8.5%) patients with definite DM. The following variables were comparable between individuals with and without anti-Jo-1 autoantibodies: age at diagnosis, sex, ethnicity, disease duration, follow-up period, recurrence rate, complete clinical response, death rate, and cancer incidence. There was no difference in clinical features between groups, except for an increased prevalence of “mechanic’s hands,” joint involvement, and lung disease, as well as a reduced occurrence of skin findings in patients positive for anti-Jo-1 autoantibodies. No anti-Jo-1-positive patients went into remission; they required greater use of glucocorticoids and immunosuppressive drugs. Conclusions Anti-Jo-1 positivity was found in 8.5% of patients with definite DM. This autoantibody was associated with an antisynthetase syndrome phenotype and might predict clinical outcomes in patients with definite DM.