Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation Found in a Patient with an Early-Onset


Address correspondence to Felicidade Santiago, M.D., Dermatology Department, Hospitais da Universidade de Coimbra, Praceta Mota Pinto, 3000-075 Coimbra, Portugal, or e-mail:


Abstract:  We report the case of a 3-month-old full-term, breast-fed infant with clinical and laboratorial findings consistent with acrodermatitis enteropathica. In addition, the mother had low zinc levels in her breast milk. Mutation analysis revealed a novel insertion in the SLC39A4 gene.