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Year : 2022  |  Volume : 15  |  Issue : 5  |  Page : 779-781  

A case of acrodermatitis enteropathica

Department of Dermatology, Army College of Medical Sciences, Base Hospital Delhi Cantt, New Delhi, India

Date of Submission06-May-2021
Date of Decision01-Jul-2021
Date of Acceptance03-Jul-2021
Date of Web Publication22-Jan-2022

Correspondence Address:
Dr. Pankaj Das
Department of Dermatology, Army College of Medical Sciences, Base Hospital Delhi Cantt, New Delhi - 110 010
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mjdrdypu.mjdrdypu_330_21

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Acrodermatitis enteropathica (AE) is a rare genetic autosomal recessive disorder of zinc deficiency which manifests in infancy with triad of peri-orificial skin rash, alopecia, and diarrhea. We report the case of an 8-month-old infant with dermatological features of AE being managed as a case of candidial-intertrigo and diaper dermatitis who showed excellent response to oral zinc.

Keywords: Acrodermatitis enteropathica, case report, nutritional dermatoses, peri-orificial rash, zinc deficiency

How to cite this article:
Das P, Arora S, Singh GK, Bahuguna A, Singh N, Verma P. A case of acrodermatitis enteropathica. Med J DY Patil Vidyapeeth 2022;15:779-81

How to cite this URL:
Das P, Arora S, Singh GK, Bahuguna A, Singh N, Verma P. A case of acrodermatitis enteropathica. Med J DY Patil Vidyapeeth [serial online] 2022 [cited 2022 Dec 10];15:779-81. Available from: https://www.mjdrdypv.org/text.asp?2022/15/5/0/336322

  Introduction Top

Zinc is an essential micronutrient which is a cofactor for enzymes necessary for growth, immune, and gene regulation.[1] Acrodermatitis enteropathica (AE) is an autosomal recessively inherited condition causing zinc deficiency mainly in infants and is reported in approximately 1 in 500,000 children.[2],[3] The skin manifestation is mainly an erythematous, scaly rash which is seen around the mouth, genitalia, and anus. Apart from the rash, there may be alopecia and diarrhea. Other systemic symptoms are mainly neurological like irritability and lethargy.[4]

  Case Report Top

An 8-month-old girl infant, born out of nonconsanguinous marriage with normal peri-natal history on breast milk along with complementary feeds and age appropriate milestones was brought by the parents to our OPD with a history of red-raised scaly lesions around the mouth and genitalia of 3 months duration. Initially, her mother noticed 2 pinhead-sized red raised lesions near genitalia, followed by more such lesions around vulva as well as around the mouth which merged with each other resulting in circumferential involvement around mouth, genitalia, perineum, and anus. There was no history of loss of appetite, diarrhea, alopecia, lethargy, or irritability. Parents consulted many doctors who treated the infant with some topical therapy for “nappy rash” despite which the lesions continued to progress. Systemic and general examination, including anthropometry measurements, was within the normal limits. Dermatological examination revealed involvement of peri-oral area in form of discrete to confluent scaly erythematous plaques with sparing of vermilion borders of the lip [Figure 1]a. Labia majora, mons pubis, medial aspect of the upper thighs, and gluteal area were similarly involved with confluent erythematous to hypo-pigmented scaly plaques with geographic margins and with relative sparing of the labia minora and inguinal folds [Figure 1]b. There were no satellite pustules. Oral cavity, hair, and nails were normal. 10% potassium hydroxide mount for Candida yeast forms was negative. Based on the above findings, the patient was clinically diagnosed with a case of AE and was confirmed by low plasma zinc levels in the infant (12 μg/dL; reference range: 50–150 μg/dL). Maternal plasma zinc level was normal. Maternal milk zinc levels could not be carried out due to the lack of access to standardized tests of zinc levels in milk. Elemental zinc at the dose of 3 mg/kg/day was started and the lesions started resolving rapidly over the next 10 days [Figure 2]a and [Figure 2]b. Parents were counseled regarding the need for zinc supplementation possibly for life and requirement of higher doses during adolescence and pregnancy.
Figure 1: (a) Involvement of peri-oral area in form of discrete to confluent scaly erythematous plaques with sparing of vermilion borders of the lip. (b) Involvement of labia majora, mons pubis, medial aspect of the upper thighs in form of confluent erythematous to hypopigmented scaly plaques with geographic margins with relative sparing of the labia minora and inguinal folds

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Figure 2: (a and b) Excellent response to oral zinc after 10 days of treatment

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  Discussion Top

Zinc is one of the crucial trace elements necessary for the body which plays important roles in the metabolism of carbohydrates, proteins, vitamins, and other functions vital for homeostasis. Zinc is needed for functioning of >300 enzymes, for gene expression, functioning of immune system, wound healing, and for DNA stability.[5] Zinc deficiency may be inherited or acquired. The acquired causes of zinc deficiency include premature and low-birth-weight infants, deficiency of zinc in mother's milk, patients on exclusive parenteral nutrition, alcoholism, postbariatric surgery, malabsorption syndromes such as celiac and Crohn's disease, ingestion of chelating agents such as ethylenediaminetetraacetic acid, and penicillamine and psychiatric illness like bulimia and anorexia nervosa.[6] The zinc deficiency in infancy is broadly categorized into three types:[7] Type I is the classical AE which is inherited in an autosomal recessive fashion and is caused due to mutation of SLC39A4 gene on chromosome 8q24.3 which causes total or partial deficiency of zinc transporter protein- ZIP4 in the intestine. The disease classically manifests when the infant is weaned from breast milk to formula feeds or cereals which possess lower zinc than breast milk. Type II zinc deficiency is caused due to defective secretion of elemental zinc into the mother's milk due to defective zinc transporter in the mother's milk glands. As compared to classical AE, the symptoms in Type II zinc deficiency appear in the first 6 months when the infant is on exclusive breast milk and improve on introduction of complementary feeds. However, there may be other causes for zinc deficiency in this age group like lower body stores of zinc and increased physiological need in preterm infants.[8],[9] The third type of zinc deficiency – Type III is seen in preterm and low-birth-weight infants who are on protracted parenteral nutrition deficient in zinc. Our patient belonged to Type I zinc deficiency which manifested with characteristic peri-orificial rash at the 5th month of life coinciding with introduction of complementary feeds and gradual progression till the 8th month of life until oral zinc supplement was introduced. The clinical signs and symptoms of AE are characterized by triad of peri-orificial rash, alopecia, and diarrhea. The rash is classically described as peri-orificial and usually begins either around the mouth or genitalia.[3] The lesions around the genitalia if not suspected for AE may be misdiagnosed with diaper-dermatitis and candidiasis. While candidiasis begins with the involvement of skin folds with “satellite pustules” in some cases, in diaper dermatitis, the skin folds are classically spared to begin with, as it is essentially an irritant contact dermatitis caused due to feces and urine coming in contact with the convexities of the diaper area under the skin.[10] A simple 10% potassium hydroxide mount for candidial yeast forms helps to clinch the diagnosis of candidial intertrigo vis-à-vis others. Any chronic rash suggestive of diaper dermatitis not responding to general and specific measures – a differential diagnosis of AE should be thought of and investigated for serum zinc levels. Serum alkaline phosphatase levels may also be investigated as it is a zinc-dependent enzyme, and its levels have been correlated with zinc deficiency in various studies.[11],[12],[13] Alternatively, if these tests are not readily available, an empirical therapy of zinc should be tried. Skin biopsy was not done because the diagnosis was obvious - infant with classic rash and low serum zinc levels. Invasive test like biopsy would not have added anything new to management. However, a biopsy may be carried out in doubtful cases. The skin lesions which initially begin as erythematous scaly lesions involving peri-oral, ano-genital, and acral areas, if untreated may progress to involve mucus membranes and sometimes erythroderma.[14] Diarrhea may be intermittent or intractable; in latter, neuropsychiatric manifestations such as lethargy, irritability, and seizures may be seen.[15] Due to the loss of otherwise impermeable barrier of the skin, secondary bacterial infections may modify the clinical picture which is even harder to diagnose with AE.[16] We could diagnose and intervene in the index case relatively early in the course of the disease when the patient had just skin manifestations leading to complete recovery.

  Conclusion Top

AE is a rare disorder seen mainly in infancy which occurs due to inherited or acquired deficiency of zinc. Any infant who presents with chronic peri-orificial rash- a diagnosis of AE should be thought of and investigated for serum zinc levels. We managed to diagnose and intervene relatively early in the course of disease before the development of systemic symptoms reducing patient's and parents suffering.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflict of interests

There is no conflict of interests.

  References Top

Kogan S, Sood A, Garnick MS. Zinc and wound healing: A review of zinc physiology and clinical applications. Wounds 2017;29:102-6.  Back to cited text no. 1
Kumar S, Thakur V, Choudhary R, Vinay K. Acrodermatitis enteropathica. J Pediatr 2020;220:258-9.  Back to cited text no. 2
Ciampo IR, Sawamura R, Ciampo LA, Fernandes MI. Acrodermatitis enteropathica: Clincal manifestations and pediatric diagnosis. Rev Paul Pediatr Orgao Soc Pediatr Sao Paulo 2018;36:238-41.  Back to cited text no. 3
Martínez-Bustamante ME, Peña-Vélez R, Almanza-Miranda E, Aceves-Barrios CA, Vargas-Pastrana T, Morayta-Ramírez Corona AR. Acrodermatitis enteropathica. Bol Med Hosp Infant Mex 2017;74:295-300.  Back to cited text no. 4
King JC, Shames DM, Woodhouse LR. Zinc homeostasis in humans. J Nutr 2000;130:1360S-6S.  Back to cited text no. 5
Livingstone C. Zinc: Physiology, deficiency, and parenteral nutrition. Nutr Clin Pract 2015;30:371-82.  Back to cited text no. 6
Kambe T, Fukue K, Ishida R, Miyazaki S. Overview of inherited zinc deficiency in infants and children. J Nutr Sci Vitaminol (Tokyo) 2015;61 Suppl:S44-6.  Back to cited text no. 7
Kiechl-Kohlendorfer U, Fink FM, Steichen-Gersdorf E. Transient symptomatic zinc deficiency in a breast-fed preterm infant. Pediatr Dermatol 2007;24:536-40.  Back to cited text no. 8
Connors TJ, Czarnecki DB, Haskett MI. Acquired zinc deficiency in a breast-fed premature infant. Arch Dermatol 1983;119:319-21.  Back to cited text no. 9
Cohen B. Differential diagnosis of diaper dermatitis. Clin Pediatr (Phila) 2017;56:16S-22S.  Back to cited text no. 10
Weismann K, Høyer H. Serum alkaline phosphatase and serum zinc levels in the diagnosis and exclusion of zinc deficiency in man. Am J Clin Nutr 1985;41:1214-9.  Back to cited text no. 11
Weismann K, Høyer H. Serum alkaline phosphatase activity in acrodermatitis enteropathica: An index of the serum zinc level. Acta Derm Venereol 1979;59:89-90.  Back to cited text no. 12
Gordon W, White PJ. Zinc deficiency in total parenteral nutrition. S Afr Med J 1978;54:824-4.  Back to cited text no. 13
Aviv R, Toh J, Eisenberg R, Khanna S, Jariwala SP. Zinc deficiency presenting as diarrhea and diffuse erythroderma. Ann Allergy Asthma Immunol 2016;117:707-8.  Back to cited text no. 14
Glutsch V, Hamm H, Goebeler M. Zinc and skin: An update. J Dtsch Dermatol Ges 2019;17:589-96.  Back to cited text no. 15
Ozkan S, Ozkan H, Fetil E, Corapçioglu F, Yilmaz S, Ozer E. Acrodermatitis enteropathica with Pseudomonas aeruginosa sepsis. Pediatr Dermatol 1999;16:444-7.  Back to cited text no. 16


  [Figure 1], [Figure 2]


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