title: Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature.
abstract: Acrodermatitis enteropathic (AE) is a rare autosomal recessive disorder due to a zinc deficiency and characterized by a classical triad of symptoms: dermatitis, alopecia, and diarrhea. The defective gene is SLC39A4, which encodes a zinc transporter. Nevertheless many abnormalities in SLC39A4 have been relieved, only 50% of patients show alterations. Here is reported the case of an infant with mild and incomplete manifestations of AE, for whom the SLC39A4 genetic test was performed. A novel mutation in SLC39A4 was identified. Zinc replacement improved rapidly the skin lesions. Our case highlights the importance of suspecting this rare condition and to perform the genetic test even in those patients who do not fulfil the classical triad of symptoms. Further efforts should be addressed to identify a more strength correlation between genotype and phenotype of this disorder.
authors.affiliation: Pediatric Unit - Department of Medical and Surgical Sciences, S. Orsola- Malpighi Hospital, Italy giampaolo.ricci@unibo.it.
authors.forename: G
authors.initials: G
authors.lastname: Ricci
authors.affiliation: Medical Genetic - Department of Medical and Surgical Sciences, S. Orsola- Malpighi Hospital, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Ferrari
authors.affiliation: Pediatric Unit - Department of Medical and Surgical Sciences, S. Orsola- Malpighi Hospital, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Calamelli
authors.affiliation: Dermatology Unit - Department of Specialistic, Diagnostic and Experimental Medicine, S. Orsola- Malpighi Hospital, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Ricci
authors.affiliation: Dermatology Unit - Department of Specialistic, Diagnostic and Experimental Medicine, S. Orsola- Malpighi Hospital, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Neri
authors.affiliation: Dermatology Unit - Department of Specialistic, Diagnostic and Experimental Medicine, S. Orsola- Malpighi Hospital, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Patrizi
mesh_terms: D000169:Acrodermatitis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D001692:Biological Transport / Q000502:physiology; D027682:Cation Transport Proteins / Q000235:genetics; D018740:Genetic Heterogeneity; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D015032:Zinc / Q000378:metabolism
chemical_list: D027682:Cation Transport Proteins; C486791:SLC39A4 protein, human; D015032:Zinc
keywords: Acral involvement; acrodermatitis enteropathic; genes; zinc.