case_images: PMC5676374_01
case_images: Electropherogram of the proband and his parents.
case_images: CRIDM2017-3905658.001.jpg
case_images: PMC5676374_01_CRIDM2017-3905658.001.jpg
case_images: fig1
case_images: The variant was confirmed by PCR-Sanger sequencing to be homozygous in the patient and heterozygous in both parents (Figure 1).
case_images: Skin lesions in the perioral, cheeks, neck, upper anterior chest wall, and perianal regions seen in an MSUD infant with isoleucine deficiency.
case_images: CRIDM2017-3905658.002.jpg
case_images: PMC5676374_01_CRIDM2017-3905658.002.jpg
case_images: fig2
case_images: On day 45, multiple discrete erythematous macules and papules appeared on the skin of the forehead, hemorrhagic crusts at both upper and lower lips, as well as well-defined erythematous patches at both cheeks, flexor part of neck, forearms, upper anterior chest wall, and perianal regions which rapidly progressed (Figure 2).
case_images: Skin lesions on the extremities and perianal region seen in an MSUD patient with zinc deficiency.
case_images: CRIDM2017-3905658.003.jpg
case_images: PMC5676374_01_CRIDM2017-3905658.003.jpg
case_images: fig3
case_images: Ten days after admission, disseminated brown maculopapular exanthem appeared on the skin of the extremities, as well as well-defined erythematous patches on the perianal region (Figure 3).
case_images: The patient became edematous with skin desquamation in the extremities and perianal region during the course of treatment.
case_images: CRIDM2017-3905658.004.jpg
case_images: PMC5676374_01_CRIDM2017-3905658.004.jpg
case_images: fig4
case_images: The patient became edematous, also suspected to be from protein deficiency as a result of malabsorption during the course of treatment (Figure 4).