PMC5676374_01
Electropherogram of the proband and his parents.
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The variant was confirmed by PCR-Sanger sequencing to be homozygous in the patient and heterozygous in both parents (Figure 1).
Skin lesions in the perioral, cheeks, neck, upper anterior chest wall, and perianal regions seen in an MSUD infant with isoleucine deficiency.
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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).
Skin lesions on the extremities and perianal region seen in an MSUD patient with zinc deficiency.
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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).
The patient became edematous with skin desquamation in the extremities and perianal region during the course of treatment.
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The patient became edematous, also suspected to be from protein deficiency as a result of malabsorption during the course of treatment (Figure 4).