Hereditary acrodermatitis enteropathica: A case report

Abstract

We report a case of hereditary acrodermatitis enteropathica. A 12-year old boy was admitted to the hospital due to recurrent skin erythema around the mouth and buttocks for 12 years and aggravation for 2 months. He was born from consanguineous marriage. The clinical manifestations included recurrent dermatitis around the mouth, nose, anus, and limb joints, accompanied by diarrhea, hair loss, and delayed growth and development. Dermatological examination revealed complete loss of hair on the head, eyebrows and armpits. Well-defined erythema and plaques were seen around the mouth, nose, eyes, groins, buttocks, extensors of knees and elbows, wrists and ankle joints, hands and feet, and skin between the fingers and toes, some of which were accompanied by yellowish-brown seborrheic thick scabs, yellowish purulent secretions with foul odor. Laboratory examination showed blood zinc levels of 4.2 μmol/L and alkaline phosphatase content of 11 U/L. The gene detection of the patient and his parents showed a homozygous deletion of exon 1 in the SLC39A4 gene. Patient was diagnosed with hereditary acrodermatitis enteropathica. Following 10 days of zinc supplement and anti-infection, diarrhea was improved and the rash gradually subsided. The blood levels of zinc and alkaline phosphatase were 8.7 μmol/L and 78 U/L, respectively. Patient continued to take zinc supplement after discharge. Hair appeared on the scalp and eyebrows at one-month follow-up. Skin lesions almost completely healed with hyperpigmentation.

Keywords

• acrodermatitis enteropathica
• heredity