Sir, Acrodermatitis enteropathica (AE) is a rare congenital disorder due to abnormality with intestinal absorption and/or transportation of zinc.[1] In an exclusively breastfed infant, breast milk is the only source of zinc in the baby.[2] Signs and symptoms of zinc deficiency appear usually after weaning.[1] Herein, we report a full term exclusively breastfed male infant developing extensive skin lesions who showed dramatic therapeutic response to oral zinc therapy. The serum zinc level was normal, but the maternal breast milk zinc content was low. A 5 month 1 day old boy born out of consanguineous marriage presented to us with extensive erythematous scaly rashes over the buttocks, legs, perioral regions, perinasal regions, and scalp. To start with, he developed erythematous lesions on the buttocks, spreading gradually to the thighs and legs bilaterally. After 8 days, new scaly and greasy erythematous lesions appeared over the scalp in the occipital region gradually spreading to the face followed by symmetrical lesions over both the hands. There was no history of diarrhea. He was treated with oral antibiotics, topical antifungal, and steroid but not relieved. The child was a term, low birth weight (2400 g) baby with uneventful perinatal period. He was exclusively breastfed and well immunized. On examination, the child was irritable with incessant cry at times, afebrile with stable vitals and normal anthropometry (weight: 6.2 kg, length: 57 cm, occipitofrontal circumference: 40.5 cm, mid upper arm circumference: 14.5 cm, and upper segment/lower segment ratio: 1.23:1). There were extensive erythematous plaques with scaling and charred looking lesions over the buttocks, lateral aspects of the thighs, and extensor aspects of the legs. Similar lesions were also found in the dorsum of both the feet involving the great toe and fifth toe sparing the interdigital spaces [Figure 1]. There were plaques with nonscarring alopecia and adherent scales over the scalp [Figure 2]. Charred looking well-defined plaques were also present over the perinasal, perioral areas and both ear lobules [Figure 1]. He was provisionally diagnosed as a case of AE and started with zinc acetate 16 mg twice daily (5 mg/kg/day) after sending investigations. Healing of lesions was noted within 5 days, and almost complete subsidence was noted in 10 days [Figure 3]. Investigation revealed normal blood counts, normal C reactive protein, normal serum zinc (spectrophotometry) (419 mg/dl, reference range: 60–120 mg/dl), and normal serum alkaline phosphatase (122 U/L, reference range: 54–369 U/L). Zinc level in maternal breast milk was found to be lower range of normal (33.2 mg/dl, reference range: 10–340 mg/dl).[2] Maternal serum zinc estimated by inductively coupled plasma–atomic absorption spectroscopy (ICP AAS) was also low normal (79 mg/dl, normal: 70–115 mg/dl). He was further advised to continue maintenance zinc acetate at 2 mg/kg/day and advised for follow up. On follow up at 8 months, there was complete healing of lesions with no recurrence. Serum zinc (ICP AAS) was normal (87 mg/dl, reference range: 70–115 mg/dl), and alkaline phosphatase was increased from the previous level (284 U/L). In vitro or in vivo absorption studies with 65Zn or 69mZc could not be done. Genetic studies for defect in Zn transporter gene could not be performed due to financial constraint.Figure 1: Charred looking well-defined plaques over extensors and periorificial areasFigure 2: Plaques with nonscarring alopecia and adherent scaleFigure 3: Photograph of the same child showing healing of lesionsAE is a rare autosomal recessive disorder caused by inability to absorb sufficient zinc from the diet. The genetic defect is in the intestinal zinc specific transporter gene SCL39A4.[1] In an exclusively breastfed infant, breast milk is the only source of zinc in the baby.[2] Zinc content in mature breast milk ranged from 10 to 340 mg/dl and not affected by maternal zinc intake. Signs and symptoms of zinc deficiency appear usually after weaning.[1] In our case, the baby was full term, exclusively breastfed and thriving normally without any diarrhea. The dermatological manifestation started at 4 months of age and was not responding to topical antifungal and oral antibiotics. Typical cutaneous eruptions described with zinc deficiency are vesiculobullous, eczematous, dry, and scaly or psoriasiform lesions symmetrically distributed in the perioral, acral, and perineal areas.[1] On the basis of typical skin lesions, AE was suspected in this case. Diagnosis of AE is usually established by reduced serum zinc levels (<50 mg/dl) and reduced serum alkaline phosphatase, a zinc dependent enzyme in classical AE.[1] A few cases with the typical picture of AE without hypozincemia (variant AE) have been described.[3] Serum zinc and alkaline phosphatase were normal in our case. A similar case report of AE in breastfed babies with low serum zinc was reported by Kharfi et al. and Zeriouh et al.[45] Hypozincemia was not established in our case similar to the case reported by Mack et al. who emphasized the diagnostic value of small bowel biopsy and essential fatty acid estimation in AE.[6] Maternal serum and breast milk zinc level was estimated using ICP AAS method in our case and found to be lower range of normal, similar to the case report by Zeriouh et al. and El Fékih et al.[57] Low breast milk zinc level may be the reason for the early dermatological manifestation in our case similar to Zeriouh et al. who reported the typical presentation at 2 months of age.[5] On follow up with maintenance zinc therapy, there was no recurrence of lesions and increase in alkaline phosphatase level. Mutation screening of the SLC39A4 gene, small bowel biopsy, and estimation of essential fatty acid was made to establish the diagnosis by different authors but could not be done in the present case.[67] AE in exclusively breastfed infants may present at an early age with extensive dermatological involvement in the presence of low content of breast milk zinc. Laboratory confirmation with estimation of zinc level in serum is not always helpful. Genetic testing is not routinely available. Early suspicion, empirical zinc therapy, and maintenance zinc therapy may be lifesaving. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials 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. Acknowledgment We are grateful to Dr. Surjit Naik and Dr. Abhisek Sahoo for managing the case and Dr. Leena Das for allowing us to publish this case report.
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