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Eye manifestations in acrodermatitis enteropathica.

C S Matta, G V Felker, C H Ide

    Archives of Ophthalmology (Chicago, Ill. : 1960)
    |February 1, 1975
    PubMed
    Summary

    A case of acrodermatitis enteropathica, a genetic disorder, showed unique symptoms including punctal stenosis and corneal changes. This patient

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    Area of Science:

    • Dermatology
    • Ophthalmology
    • Genetics

    Background:

    • Acrodermatitis enteropathica (AE) is a rare genetic disorder of zinc malabsorption.
    • AE typically presents in infancy with characteristic skin lesions and gastrointestinal issues.
    • Ocular and other systemic manifestations are less common but can occur.

    Purpose of the Study:

    • To report a unique case of acrodermatitis enteropathica with unusual clinical manifestations.
    • To highlight the importance of recognizing diverse presentations of AE for timely diagnosis and management.
    • To contribute to the understanding of long-term outcomes in surviving adult patients with AE.

    Main Methods:

    • Case report detailing clinical presentation, diagnostic workup, and management.
    • Review of relevant literature on acrodermatitis enteropathica and its ocular manifestations.

    Main Results:

    • The presented case is the first documented instance of acrodermatitis enteropathica manifesting with punctal stenosis.
    • This case represents the fourth reported occurrence of corneal changes associated with AE.
    • The patient survived into adulthood, making this the sixth reported adult survivor with AE.

    Conclusions:

    • Acrodermatitis enteropathica can present with a wider spectrum of clinical findings than previously recognized.
    • Punctal stenosis and corneal changes should be considered in the differential diagnosis of AE.
    • Improved survival rates underscore the need for comprehensive long-term care for AE patients.

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