title: Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels.
abstract: Acrodermatitis enteropathica (AE) is a rare disease that results from a defective gene, SLC39A4, and is characterized by dermatitis, alopecia, and diarrhea. We report a case of AE presenting with only periorificial and acral dermatitis in which genetic testing revealed two novel compound heterozygous missense mutations for SLC39A4. This case demonstrates that not all AE mutations alter zinc transporters in the same manner and highlights the phenotypic variability of AE.
authors.affiliation: Dermatology Department, Hospital Universitario "Dr. José Eleuterio González" UANL, Monterrey, Nuevo León, México.
authors.forename: Verónica
authors.initials: V
authors.lastname: Garza-Rodríguez
authors.affiliation: Dermatology Department, Hospital Universitario "Dr. José Eleuterio González" UANL, Monterrey, Nuevo León, México.
authors.forename: Alberto
authors.initials: A
authors.lastname: de la Fuente-García
authors.affiliation: Dermatology Department, Hospital Universitario "Dr. José Eleuterio González" UANL, Monterrey, Nuevo León, México.
authors.forename: Carmen
authors.initials: C
authors.lastname: Liy-Wong
authors.affiliation: CHU Nantes, Pôle de Biologie, Service de Génétique Médicale, Nantes Cedex 1, France.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Küry
authors.affiliation: CHU Nantes, Pôle de Biologie, Service de Génétique Médicale, Nantes Cedex 1, France.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Schmitt
authors.affiliation: Risk-Based Decisions, Inc., Sacramento, California.
authors.forename: Ijaz S
authors.initials: IS
authors.lastname: Jamall
authors.affiliation: Dermatology Department, Hospital Universitario "Dr. José Eleuterio González" UANL, Monterrey, Nuevo León, México.
authors.forename: Jorge
authors.initials: J
authors.lastname: Ocampo-Candiani
mesh_terms: D000169:Acrodermatitis / Q000188:drug therapy* / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D006801:Humans; D008297:Male; D009154:Mutation; D015032:Zinc / Q000172:deficiency* / Q000627:therapeutic use*
chemical_list: D027682:Cation Transport Proteins; C486791:SLC39A4 protein, human; D015032:Zinc