Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy. DM can be classified into adult and childhood types. Adult DM can be further subdivided into classic DM, amyopathic DM, and DM with overlap.1 Patients with classic DM typically have a symmetric proximal muscle weakness and characteristic skin findings of macular violaceous erythema and Gottronâ€™s papules.1 The macular violaceous erythema can be located periorbitally (heliotrope sign), overlying the dorsal finger joints (Gottronâ€™s sign), chest (V-sign), lateral thighs (holster sign) or back/shoulders (shawl sign). Other skin findings include mechanics hands, flagellate erythema, periungal abnormalities, calcinosis cutis, seborrheic dermatitis-like rash and erythroderma. Amyopathic DM is characterized by classic skin findings without any evidence of muscle disease. Approximately 20% of adult classic DM and 8%-28% of adult amyopathic DM are associated with malignancy.2 DM with overlap is a type of undifferentiated connective tissue disease, defined as dermatomyositis with symptoms and clinical findings of other connective tissue diseases. Cancerassociated myositis has also been reported in DM with overlap, but the incidence is less then that of classic and amyopathic DM.3
A 55 year-old female presented with a three-month history of asymptomatic bilateral eyelid nodules and a persistent rash of the upper eyelids. Past treatments included high-dose oral prednisone, topical steroids and topical calcineurin inhibitors. The rash initially cleared with a short course of high-dose prednisone, but recurred within weeks after discontinuation. Topical medications were ineffective. No treatments had improved her eyelid nodules. Past medical history was significant for Raynaudâ€™s phenomenon and a symmetric inflammatory polyarthritis, well controlled on methotrexate, low-dose prednisone and hydroxychloroquine.
Clinical exam revealed an ill-defined violaceous erythema of the upper eyelids and overlying the metacarpophalangeal joints of the hands bilaterally. There were two firm skin-colored, subcutaneous nodules overlying the lateral supraorbital margins bilaterally measuring 4-6mm in diameter (Figure 1). The remainder of the skin exam was unremarkable. A punch biopsy of a representative nodule was obtained. Histological examination demonstrated a mild perivascular chronic inflammation in the dermis and inflammation, necrosis and focal atrophy of the obicularis oculi muscle bundles (Figure 2 & 3). These findings were consistent with a chronic myositis. Creatine kinase (CK) was within normal limits. Anti-Jo-1, Anti-DNA and Anti-RNP antibodies were negative. The patient was continued on her treatment regimen of methotrexate, low-dose prednisone and hydroxychloroquine. Since the nodules and rash were asymptomatic, the patient did not desire any further medical interventions.
Involvement of the orbicularis oculi muscle in dermatomyositis has rarely been reported in the literature, but has been noted to cause tenderness of the eyelids.4 Koktis et al (2005) presented a case of dermatomyositis that presented with eyelid edema, erythema, and orbital pain, and was found to have involvement of the lateral, inferior and superior rectus muscles, frontalis muscle and orbicularis oculi muscles on MRI imaging.5 While not the first example in the literature of dermatomyositis involving the eyelids, to our knowledge, this is the first case of dermatomyositis presenting with eyelid nodules due to biopsy-proven myositis of the underlying orbicularis oculi muscles.
Classic dermatomyositis presents with slowly progressive symmetric proximal muscle and truncal weakness. This typically affects the shoulders and hip girdle, presenting clinically with difficulty rising from a chair, walking up steps and lifting the arms above the head. The proximal muscles most commonly involved are the hip muscles (extensors, flexors and abductors), neck flexors and shoulder abductors.6 Distal muscle involvement is less common, but can occur later in the course of the disease.7 Other skeletal muscles with well-recognized involvement in dermatomyositis are the diaphragm, oropharyngeal muscles and esophageal muscles. Diaphragm weakness is rare, but life threatening. Esophageal and oropharyngeal dysfunction, on the other hand, are quite common (25%-84%) and can result in dysphagia, cachexia and aspiration pneumonia.8 Facial muscle involvement and jaw muscle involvement, specifically jaw-opening weakness, have also been described in the literature.9
The tests available for the work-up of muscle disease in dermatomyositis, include serum muscle enzymes (ie, CK and aldolase),