Skin Signs as the Presenting Manifestation of Severe Nutritional Deficiency

Abstract

A 17-month-old girl was brought by her parents and grandparents for a further opinion regarding her 3-month history of an itching skin eruption, thinning of scalp hair with hair “falling out in clumps,” swelling of her extremities, and lack of weight gain. One year earlier, her rate of growth slowed and reached progressively lower percentiles on a normal growth curve. Although she had started walking at 10 months of age, she stopped in the previous 3 months and was unsteady on her feet. She had a history of chronic atopic dermatitis managed with topical corticosteroids, emollients, and topical 0.1% tacrolimus, previously with reasonable control. Four months earlier, her dermatologist had performed radioallergosorbent testing (RAST), which showed positive results for multiple foods including green beans, strawberries, wheat, green peas, milk, eggs, beef, chicken, potatoes, barley, corn, rice, oranges, and soybeans. On physical examination her height was 70.5 cm and her weight 7.5 kg. These values were less than the third percentile for her age group. She had widespread discrete and confluent patches and plaques with mild flaking paintlike scaling most prominent on the extensor surfaces (Figure 1). Follicular papules were present on the upper and lower extremities and there was mild pitting edema of the lower extremities. The scalp showed diffuse sparse thinned hairs and diffuse yellow scaling. (Figure 2A). The scalp hairs had hypopigmented roots suggestive of an early flag sign (Figure 2B). Laboratory studies demonstrated marked anemia, protein deficiency, and abnormal liver test results. The child’s hemoglobin concentration was 7.8 g/dL (reference range, 10.5-13.5 g/dL), with a hematocrit of 23% (reference range, 33%-40%). Her total serum protein was 3.5 g/dL (reference range, 6.3-7.9 g/dL), with an albumin value of 1.2 g/dL (reference range, 3.5-5.0 g/dL) and a prealbumin value of 10 mg/dL (reference range, 19-38 mg/dL). Her serum levels of alkaline phosphatase and biotinidase were normal at 469 U/L (reference range, 368809 U/L) and 6.8 U/L (reference range, 3.5-13.8 U/L), respectively, but her levels of aspartate aminotransferase and alanine aminotransferase were 54 U/L (reference range, 26-48 U/L) and 54 U/L (reference range, 9-29 U/L), respectively. Serum amino acid screening revealed low levels of virtually all amino acids and her zinc level was low, at 0.27 μg/mL (reference range, 0.66-1.10 μg/mL). Her bone age was estimated to be 71⁄2 months, which represented a considerable delay in maturation. A genetics consultation suggested that the likelihood of B A