Dr. Michael Centilli
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1 Dr. Michael Centilli
2 3 year old Caucasian female Chief Complaint Widespread, pruritic rash of 1 ½ years duration that had failed numerous therapies Past Medical History Failure to thrive, patent ductus arteriosus and atrial septal defect Possibility of consanguinity Review of Systems Recurrent diaper rash, infrequent episodes of diarrhea, physical and mental delay, and numerous culture positive cutaneous infections
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5 Netherton s Syndrome Nutritional Deficiency Infantile Seborrheic Dermatitis Infantile Psoriasis Langerhans Cell Histiocytosis Glucagonoma Leiner s Disease
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7 Trichogram Negative for hair shaft abnormalities Genetic testing Negative for SPINK5 gene mutation Hematology CBC within normal limits Serum zinc <25mcg/dL ( mcg/dl) Serum alkaline phosphatase 44 U/L ( U/L) Genetic testing ordered to confirm SLC39A4 zinc transporter defect Denied by Medicaid
8 30 mg/day of elemental zinc Rapid resolution of the skin rash Improved appetite with weight gain Improvement in motor skills and mentation
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10 Hereditary Autosomal recessive form of zinc deficiency Exhibits no predilection for race or sex Mutation of the SLC39A4 gene Acquired Zinc Deficiency Inadequate intake Malabsorption Excessive loss Inadequate stores in premature formula fed infants
11 Timing Within 1 to 2 weeks upon weaning from breast milk to formula or cereal Lower zinc bioavailability than breast milk Can occur in exclusively breast-fed infants Typically premature
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17 Persistent cutaneous infections Conjunctivitis Blepharitis Candidiasis Paronychia Photosensitivity
18 Growth retardation Anemia Hypogonadism Delayed puberty Neuropsychological disturbances Altered mental status Anorexia
19 Plasma zinc level Normal μg/dl Frequently less than 50 μg/dl Alkaline phosphatase Zinc dependent enzyme Depleted in AE
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21 Hereditary form of AE Elemental zinc 1-2 mg/kg/day for life Acquired forms of AE Duration varies by etiology Serum zinc and alkaline phosphatase monitoring Every 3 to 6 months Adjust zinc dose accordingly
22 Drug shortages becoming commonplace in today s market Zinc is a vital component of parenteral nutrition formulations Shortages of injectable zinc, typically administered to premature or compromised infants, accountable for numerous cases of acrodermatitis enteropathica
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24 1. Canpolat F, Canpolat FE, Eskioglu F. Acrodermatitis enteropathica in a full-term exclusively breast-fed infant. Eur J Dermatol Mar- Apr;18(2): Jensen SL, McCuaig C, Zembowicz A, Hurt MA. Bullous lesions in acrodermatitis enteropathica delaying diagnosis of zinc deficiency: a report of two cases and review of the literature. J Cutan Pathol. 2008;35(Suppl.1): Maverakis E, Fung MA, Lynch PJ, Draznin M, Michael DJ, Ruben B, et al. Acrodermatits enteropathica and an overview of zinc metabolism. J Am Acad Dermatol. 2007;56(1): Nakano A, Nakano H, Nomura K, Toyomaki Y, Hanada K. Novel SLC39A4 mutations in acrodermatitis enteropathica. J Invest Dermatol Jun;120(6): Park CH, Lee MJ, Kim HJ, Lee G, Park JW, Cinn YW. Congenital zinc deficiency from mutations of the SLC39A4 gene as the genetic background of acrodermatitis enteropathica. J Korean Med Sci Dec;25(12): Van Wouwe JP. Clinical and laboratory diagnosis of acrodermatitis enteropathica. Eur J Pediatr. 1989;149(1):2-8.
25 7. Küry S, Kharfi M, Schmitt S, Bézieau S. Clinical utility gene card for: acrodermatitis enteropathica. Eur J Hum Genet Mar;20(3). 8. Kumar P, Lal NR, Mondal AK, Mondal A, Gharami RC, Maiti A. Zinc and skin: a brief summary. Dermatol Online J Mar 15;18(3):1. 9. Kilic M, Taskesen M, Coskun T, Gürakan F, Tokatli A, Sivri HS, Dursun A, Schmitt S, Küry S. A Zinc Sulphate- Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene. JIMD Rep. 2012;2: Gupta M, Mahajan VK, Mehta KS, Chauhan PS. Zinc therapy in dermatology: a review. Dermatol Res Pract Park CH, Lee MJ, Kim HJ, Lee G, Park JW, Cinn YW. Congenital zinc deficiency from mutations of the SLC39A4 gene as the genetic background of acrodermatitis enteropathica. J Korean Med Sci Dec;25(12):
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