eMedicine Specialties > Ophthalmology > Dermatologic Disorders

Acrodermatitis Enteropathica: Treatment & Medication

Author: John D Sheppard Jr, MD, MMSc, Professor of Ophthalmology, Microbiology and Molecular Biology, Clinical Director, Thomas R Lee Center for Ocular Pharmacology, Program Director, Ophthalmology Residency Training, Eastern Virginia Medical School; President, Virginia Eye Consultants
Coauthor(s): Timothy G Woodall, MD, Dermatology, Carolinas Medical Center - Pineville
Contributor Information and Disclosures

Updated: Jun 8, 2009

Treatment

Medical Care

Systemic treatment requires lifelong zinc supplementation. Ocular therapy requires vigorous ocular surface supportive measures and intervention when secondary bacterial or candidal infection, trichiasis, or other complications occur. There is no known corrective genetic treatment available. Good copies of the defective gene have not yet been coupled to vectors capable of altering human phenotypes.

Surgical Care

Advanced cases may require oculoplastic surgical intervention including lid reconstruction, tarsorrhaphy, or epilation therapy. Ocular surface reconstruction with conjunctival transplantation or human amniotic membrane grafts also is a possibility in severe situations. Corneal transplantation may be required in cases of severe keratomalacia or infectious keratitis. These therapies are recommended with good judgment in the context of severe failure to thrive and limited predicted life span.

Consultations

Consultation with pediatrics, genetics, dermatology, or plastic surgery may be useful.

Diet

Treatment of patients with AE involves greater than 1-2 mg/kg of oral zinc supplementation per day for life. No special diet is necessary as long as zinc supplementation is continued.

Activity

No activity limitations are required in adequately treated cases. Patients with severe ocular surface inflammation may require certain restrictions from dusty, dry, or dirty environments.

Medication

Treatment of patients with AE involves greater than 1-2 mg/kg of oral zinc supplementation per day for life.

Mineral supplements

These agents are used to reduce morbidity and to prevent complications.


Zinc gluconate (Verazinc, Zinca-Pak, Orazinc)

Cofactor for more than 70 types of enzymes; plays a role in many metabolic processes. One 10-mg tablet of zinc gluconate contains 1.4 mg of elemental zinc.

Adult

1 mg/kg/d for life

Pediatric

Not established

May reduce penicillamine and tetracycline effects

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Renal impairment

More on Acrodermatitis Enteropathica

Overview: Acrodermatitis Enteropathica
Differential Diagnoses & Workup: Acrodermatitis Enteropathica
Treatment & Medication: Acrodermatitis Enteropathica
Follow-up: Acrodermatitis Enteropathica
References
Further Reading
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References

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  2. Andrews GK. Regulation and function of Zip4, the acrodermatitis enteropathica gene. Biochem Soc Trans. Dec 2008;36:1242-6. [Medline].

  3. Kambe T, Andrews GK. Novel proteolytic processing of the ectodomain of the zinc transporter ZIP4 (SLC39A4) during zinc deficiency is inhibited by acrodermatitis enteropathica mutations. Mol Cell Biol. Jan 2009;29(1):129-39. [Medline].

  4. 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. Oct 2008;35 Suppl 1:1-13. [Medline].

  5. Evans GW, Johnson PE. Characterization and quantitation of a zinc-binding ligand in human milk. Pediatr Res. Jul 1980;14(7):876-80. [Medline].

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  7. Cousins RJ, Smith KT. Zinc-binding properties of bovine and human milk in vitro: influence of changes in zinc content. Am J Clin Nutr. May 1980;33(5):1083-7. [Medline].

  8. Nakano A, Nakano H, Nomura K. Novel SLC39A4 mutations in acrodermatitis enteropathica. J Invest Dermatol. 2003;Jun;120(6):963-6. [Medline]. [Full Text].

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  28. Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S. An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. Hum Mutat. Jan 29 2009;[Medline].

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  31. Zimmerman AW, Hambidge KM, Lepow ML, et al. Acrodermatitis in breast-fed premature infants: evidence for a defect of mammary zinc secretion. Pediatrics. Feb 1982;69(2):176-83. [Medline].

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Keywords

acrodermatitis enteropathica, AE, autosomal recessive zinc deficiency, ocular disease, photophobia, blepharospasm, amblyopia, lid sloughing, chronic conjunctivitis, seborrheic blepharitis, punctate keratopathy, keratomalacia, lid deficit, conjunctival deficit, ocular surface deficit, paronychia, alopecia, trichiasis, entropion, lash loss, brow loss, punctal stenosis, corneal changes, keratitis sicca, infectious keratitis

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Contributor Information and Disclosures

Author

John D Sheppard Jr, MD, MMSc, Professor of Ophthalmology, Microbiology and Molecular Biology, Clinical Director, Thomas R Lee Center for Ocular Pharmacology, Program Director, Ophthalmology Residency Training, Eastern Virginia Medical School; President, Virginia Eye Consultants
John D Sheppard Jr, MD, MMSc is a member of the following medical societies: American Academy of Ophthalmology, American Society for Microbiology, American Society of Cataract and Refractive Surgery, American Uveitis Society, and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

Coauthor(s)

Timothy G Woodall, MD, Dermatology, Carolinas Medical Center - Pineville
Timothy G Woodall, MD is a member of the following medical societies: American Academy of Dermatology, American Society for Dermatologic Surgery, and South Carolina Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Andrew A Dahl, MD, Director of Ophthalmology Teaching, Mid-Hudson Family Practice Institute, The Institute for Family Health; Assistant Professor of Surgery (Ophthalmology), New York College of Medicine
Andrew A Dahl, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Ophthalmology, American College of Surgeons, American Medical Association, American Society of Cataract and Refractive Surgery, and Wilderness Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Simon K Law, MD, PharmD, Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles
Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

Managing Editor

Christopher J Rapuano, MD, Professor, Department of Ophthalmology, Jefferson Medical College of Thomas Jefferson University; Co-Chairman of the Cornea Service, Co-Chairman of Refractive Surgery Department, Wills Eye Institute
Christopher J Rapuano, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, Cornea Society, Eye Bank Association of America, International Society of Refractive Surgery, and Pan-American Association of Ophthalmology
Disclosure: Allergan Honoraria Speaking and teaching; Allergan Consulting fee Consulting; Alcon Honoraria Speaking and teaching; Inspire Honoraria Speaking and teaching; RPS Ownership interest Other; Vistakon Honoraria Speaking and teaching

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD, Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences
Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

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