Inherited Acrodermatitis Enteropathica

A 7-month-old girl child presented with a history of 1-week-long diarrhea, erythematous, oozy, and scaly lesions over the face and groin. She was born of a nonconsanguineous marriage with an uneventful antenatal and perinatal period and was weaned off a month ago. Examination revealed confluent erythematous scaly plaques with crusting over the borders distributed symmetrically over the thighs and perineum [Figure 1]. Similar plaques were also noted over the peri-oral region in a horseshoe-like manner [Figure 2]. Patches of alopecia were also noted on the scalp, along with dry and brittle hair. She was diagnosed with inherited acrodermatitis enteropathica (ADE), and it was confirmed by a low serum zinc level of 0.42 µg/mL (normal range: 0.60–1.20 µg/mL). The lesions showed significant resolution in the next 4 weeks following zinc therapy (2 mg/kg/day).Figure 1: Confluent erythematous scaly plaques with crusting over the borders distributed symmetrically over the thighs and perineumFigure 2: Erythematous oozy crusted plaques distributed in a horse-shoe-shaped manner over the perioral region with sparing of the upper lipADE is an autosomal recessive disorder caused by the intestinal zinc transporter gene SLC39A4 encoding for ZIP4 protein on intestinal epithelia. It is characterized by recurrent diarrhea, typical mucocutaneous lesions, and hair abnormalities. Breastfed infants usually manifest late during weaning as a result of superior absorption of zinc from breast milk than formula feeds.[1] Cutaneous lesions are symmetrical eczematous periorificial plaques affecting perineal, perianal, and perioral areas which are typically “horseshoe-shaped” or “U-shaped.” Psoriasis, irritant contact dermatitis, and biotin deficiency can have similar cutaneous lesions.[2] The diagnosis is established by a low serum zinc level and hypoalbuminemia. The management of ADE is the zinc supplementation at a dose of 0.5–3 mg/kg/day.[2,3] Declaration of consent The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s)/guardian(s) of the patient. In the form, the parent(s)/guardian(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child/children will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.