Visual Diagnosis: Rash and Fatigue in a 6-year-old Girl

Presentation

A 6-year-old girl with a complex cardiac history that includes transposition of the great vessels status-post repair presents to the general pediatric clinic for a routine well-child examination. Her mother, present during the appointment, is concerned that the patient developed an itchy rash on her face last month, which has since spread to her elbows. Her rash had been diagnosed as eczema 2 weeks previously. She has been using 1% hydrocortisone cream on her face twice a day for 2 weeks and emollients several times per day without any relief. Along with her rash, she also feels tired when she plays for too long. She lies down to rest after play sessions and fatigues easily when walking up stairs. She does not have difficulty getting out of bed or rising from a chair. On review of systems, her mother does not report that she has fevers, joint pain, joint swelling, weight loss, headaches, vision changes, urinary issues, heart palpitations, or swollen lymph nodes. Examination of her skin reveals a macular, nonblanching, erythematous, scaly rash on the central face, including the nasolabial folds and the upper lateral sidewall of the nose (Fig 1). She also has erythematous plaques with scaling over both elbows and knees (Fig 2). Muscle strength testing reveals subtle weakness on adduction of her arms.

Laboratory studies reveal that her antinuclear antibody test is positive at 1:640 (normal ≤1:40). Her aspartate aminotransferase level is elevated at 58 …