eMedicine Specialties > Ophthalmology > Dermatologic Disorders

Acrodermatitis Enteropathica: Follow-up

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

Follow-up

Further Inpatient Care

  • Severely ill infants are admitted until stable. If untreated, cutaneous and lid lesions may become secondarily infected with S aureus and C albicans. Infants also may experience withdrawal, photophobia, and loss of appetite.
  • Further progression and even death from secondary infection may occur if AE is left untreated.

Further Outpatient Care

  • Zinc supplementation as already described
  • Periodic ophthalmologic follow-up care as indicated
  • Periodic dermatologic follow-up care as indicated

Inpatient & Outpatient Medications

  • Zinc supplementation as previously described
  • Topical ophthalmologic preparations for irritative or infectious complications as indicated
  • Topical dermatologic preparations for irritative or infectious complications as indicated
  • Systemic antibiotics for severe ocular or cutaneous infectious complications as indicated

Deterrence/Prevention

  • Genetic counseling may be important to parents inquiring about conceiving additional children. Additional family members at risk also may be discovered.

Complications

  • Ophthalmologic irritative complications and secondary infections, particularly with Staphylococcus and C albicans
  • Lid disease including seborrheic and infectious blepharitis, trichiasis, and entropion
  • Severe corneal disease including ectasia, infectious keratitis, and keratomalacia
  • Secondary Sjögren syndrome and keratitis sicca
  • Dermatologic irritative states and secondary infections, particularly with Staphylococcus and C albicans

Prognosis

  • With early diagnosis and zinc supplementation, the prognosis is good. Ophthalmic complications are far less severe when the systemic disease is treated. Advanced cases may have severe ophthalmic complications.
  • Ocular surface complications and infections
    • Blepharitis
    • Conjunctivitis
    • Keratitis, corneal ectasia, keratomalacia, and corneal neovascularization
  • Eyelid complications
    • Trichiasis and entropion with secondary corneal damage
    • Ectropion, ptosis, lash loss, brow loss, and other lid deformities
    • Symblepharon
  • Amblyopia

Patient Education

  • Dietary and genetic counseling are important.

Miscellaneous

Medicolegal Pitfalls

  • Early diagnosis and treatment should preclude any medical/legal pitfalls. Follow-up care with the appropriate specialists, and clear instructions for zinc supplementation are essential. Delayed diagnosis presents the most urgent cause for litigation risk, which usually lies within the realm of the pediatrician.

Special Concerns

  • AE can be diagnosed by the astute pediatrician familiar with its presentation. Dermatologic consultation may be key, while the ophthalmologist rarely is called upon to finalize the diagnosis. AE may only be diagnosed accurately through dietary zinc restriction and withdrawal, since a genetically based test currently is unavailable. Patients with AE must remain on zinc supplementation for life. Differentiating AE from acquired zinc deficiencies can be difficult since both present in the same manner. Low zinc levels in the mother's milk may produce an acquired zinc deficiency in full-term, breastfed infants.
  • Zimmerman et al have proposed that some acquired zinc deficiencies may be caused by a defect in mammary zinc secretion. Their studies may dispute the claim that human breast milk has a protective effect against zinc deficiency. Acquired zinc deficiency also occurs in premature infants, whether maternal zinc levels are low or normal, due to the infants' greater bodily demand and immaturely developed bodily zinc storage.
  • Infections are an important finding in AE. Zinc deficiency diminishes antibody- and cell-mediated responses in both humans and animals. The moderate deficiencies in zinc noted in sickle cell anemia, renal disease, chronic gastrointestinal disorders, and AE cause variable degrees of morbidity and mortality secondary to infection.
 


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].

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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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