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Case report reveals diagnosis of Dyschromatosis Universalis Hereditaria with bilateral keratopathy, suggesting early recognition can prevent complications.
A 14-year-old male presented with bilateral corneal thinning and opacification. Clinical examination revealed impending perforation of the right eye. There was a history of pigmented macules all over the trunk and extremities, as well as buccal mucosa, which was previously misdiagnosed and managed as Addison’s disease. Subsequently, skin biopsy confirmed the diagnosis of Dyschromatosis Universalis Hereditaria (DUH) – a genodermatosis. This report highlights the rare association of DUH with bilateral keratopathy emphasizing the importance of early recognition to avoid diagnostic delays and prevent vision-threatening complications.
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Kumari et al. (2026) studied this question.
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