Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
DOI:
https://doi.org/10.18203/issn.2455-4529.IntJResDermatol20252555Keywords:
Acrodermatitis enteropathica, Zinc deficiency, ZIP4 transporter, Periorificial dermatitis, Alopecia, Erythrokeratoderma variabilis, Nutritional dermatosis, Zinc supplementationAbstract
Acrodermatitis enteropathica (AE) is an uncommon genetic condition marked by impaired zinc absorption, often presenting with skin and hair changes. An 18-year-old male came to our department with longstanding scaly skin lesions showing a migratory pattern, closely resembling erythrokeratoderma variabilis (EKV), along with universal hair loss. Symptoms had worsened after using traditional remedies. A family history of similar complaints in a sibling was noted. His serum zinc level measured 116 ng/ml. Treatment with oral zinc at 3 mg/kg showed limited improvement, which significantly increased after raising the dose to 5 mg/kg. Based on the periorificial involvement, alopecia, family history, and response to zinc, a diagnosis of AE was made. This case highlights an atypical presentation of AE mimicking EKV, emphasizing the need for high suspicion in unusual dermatoses and the importance of therapeutic response in guiding diagnosis.
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Wang K, Zhou B. ZIP4-mediated zinc transport: roles in intestinal function and pathogenesis. Mol Aspects Med. 2013;34(2-3):344-51.
Maverakis E, Fung MA, Lynch PJ, Draznin M, Michael DJ, Ruben B, et al. Acrodermatitis enteropathica and an overview of zinc metabolism. J Am Acad Dermatol. 2007;56(1):116-24. DOI: https://doi.org/10.1016/j.jaad.2006.08.015
Nistor N, Stoian M, Giurcaneanu C. Adult-onset acrodermatitis enteropathica: a diagnostic challenge. J Dermatol Case Rep. 2018;12(3):94-7.
Prasad AS. Zinc in human health: effect of zinc on immune cells. Mol Med. 2008;14(5-6):353-7. DOI: https://doi.org/10.2119/2008-00033.Prasad
Baruch D, Naga L, Driscoll M, Kao G. Acrodermatitis enteropathica from zinc-deficient total parenteral nutrition. Cutis. 2018;101(6):450-3.
Rogers M. Erythrokeratodermas: a classification in a state of flux? Australas J Dermatol. 2005;46(3):127-41. DOI: https://doi.org/10.1111/j.1440-0960.2005.00165.x
Hendrix JD, Greer KE. Erythrokeratodermia variabilis present at birth: case report and review of the literature. Pediatr Dermatol. 1995;12(4):351-4. DOI: https://doi.org/10.1111/j.1525-1470.1995.tb00200.x
Hohl D. Towards a better classification of erythrokeratodermias. Br J Dermatol. 2000;143(6):1133-7. DOI: https://doi.org/10.1046/j.1365-2133.2000.04001.x
Landau M, Cohen-Bar-Dayan M, Hohl D, Ophir J, Wolf CR, Gat A, et al. Erythrokeratodermia variabilis with erythema gyratum repens-like lesions. Pediatr Dermatol. 2002;19(4):285-92. DOI: https://doi.org/10.1046/j.1525-1470.2002.00085.x
Rajagopalan B, Pulimood S, George S, Jacob M. Erythrokeratoderma en cocardes. Clin Exp Dermatol. 1999;24(3):173-4. DOI: https://doi.org/10.1046/j.1365-2230.1999.00446.x
Singh N, Thappa DM. Erythrokeratoderma variabilis responding to low-dose isotretinoin. Pediatr Dermatol. 2010;27(1):111-3. DOI: https://doi.org/10.1111/j.1525-1470.2009.01044.x
Ishida-Yamamoto A. Erythrokeratodermia variabilis et progressiva. J Dermatol. 2016;43(3):280-5. DOI: https://doi.org/10.1111/1346-8138.13220
Itin P, Levy CA, Sommacal-Schopf D, Schnyder UW. Family study of erythrokeratodermia figurata variabilis. Hautarzt. 1992;43(8):500-4.
Hotz A, Fölster-Holst R, Oji V, Bourrat E, Frank J, Marrakchi S, et al. Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. Genes (Basel). 2024;15(3):288. DOI: https://doi.org/10.3390/genes15030288
Scott CA, O'Toole EA, Mohungoo MJ, Messenger A, Kelsell DP. Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis. Clin Exp Dermatol. 2011;36(1):88-90. DOI: https://doi.org/10.1111/j.1365-2230.2010.03945.x
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