Acrodermatitis enteropathica in a pair of twins

Abstract

Background: Acrodermatitis enteropathica (AE) is a rare autosomal recessive metabolic disorder. First described by Brandt in 1936 and was named by Danbolt. A mutation in the SLC39A4 gene on chromosome 8 q24.3 is responsible for this disorder, which encodes zinc transporter Zip4. The diagnosis is made by the clinical presentation and histopathology and laboratory tests. In this case, we reported a twin presented with a typical rash and low zinc level. To our knowledge, very few cases reported as a twin with typical acrodermatitis enteropathica presentation.Main observations: Four months old twins both females, first children of a non-consanguineous marriage. The twins were born at term, caesarian section, with no complications. Presented with erythema, scaling, crusting and oozing over perioral, perianal areas, hands and feet of 2-3 week duration. The lesions started around the same time for both children with a history of intermittent diarrhea, and hair loss. There were no nail changes or neurological deficit or myopathy. There was a history of recent weaning from breast milk and now both children on formula feeds, ragi, fruits. There was no other significant history of other medical problems in the patients or in their family. On examination, erythema, scaling, crusting and oozing over perioral, perianal areas, hands and feet was seen. Minimal diffuse alopecia was noted. Nails were normal. No other abnormalities were observed. Clinical diagnosis of acrodermatitis enteropathica was considered and confirmed by low zinc levels (repeated plasma zinc levels were below 0.6 mcg/ml). The twins were managed with zinc supplementation 1 mg/kg/day. A significant improvement was seen within two weeks. Conclusions:Early diagnosis of acrodermatitis enteropathica is essential for preventing complications. We report a rare case of typical clinical presentation of the disease developing simultaneously in twins. (J Dermatol Case Rep.

Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation

“…The diagnosis of AE is based on clinical symptoms and improvement after zinc supplementation. Low levels of plasma/serum zinc can further support the diagnosis, and the detection of a pathogenic mutation in the SLC39A4 gene can finally diagnose AE ( 12 , 13 ). A low level of serum alkaline phosphatase, a zinc-dependent metalloenzyme, may support the diagnosis of AE ( 14 ).…”