నైరూప్య

Diagnosis of sclerodermatomyositis in Ethiopian woman

Zenahbezu Abay, Nebiyu Bekele, Fikadu Alemye, Endalkachew Belayneh, Abebe Worku & Abilo Tadesse*

Background: Sclerodermatomyosits is an overlap syndrome diagnosed when systemic sclerosis and dermatomyositis are observed in one patient, which develops simultaneously or sequentially. The American College of Rheumatology - European League against Rheumatism (ACR-EULAR) classification Criteria was implemented to define both diseases.

Case presentation: A 36-year-old female patient was presented with excessive clumsiness and sleepiness of one year duration. She was diagnosed with hypothyroidism and was started on levothyroxine. She noticed associated white-blue-red discoloration of digits upon exposure to cold, diffuse skin thickening and tightness, dysphagia to solid foods, constipation, and difficulty of standing up from a toilet seat, holding objects, and combing hair. She was tired all the time, had muscle aches, and had lost her appetite and weight. On physical examination, vital signs were within normal limits. She had diffuse scleroderma-like skin changes with a salt-and-pepper appearance over extremities, neck and trunk. She had erythematic skin eruptions over the palpebrae (heliotrope rash), and depigmented skin lesions over the knuckles (Guttron’s sign), neck and chest (V-sign), and back (Shawl sign), rough and cracked hands (mechanic’s hands) and pitted fingertip scars. She had difficulty of getting out of a chair and lifting objects. Skeletal muscle enzyme was elevated and muscle biopsy revealed muscle fiber atrophy with collagenous fibrosis. Diagnoses of systemic sclerosis and dermatomyositis were settled by ACR-EULAR classification criteria.

Conclusion: The patient described had sclerodermatomyositis using ACR-EULAR Classification Criteria. A high index of clinical suspicion is required to diagnose this rare disease in resource-limited settings to prevent adverse outcomes.