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Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations
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Dyschromatosis Universalis.

P K Singh, B V Ramachandra, S S Pandey

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    Summary
    This summary is machine-generated.

    This study reports a rare genetic skin disorder, dyschromatosis universalis, in two Indian brothers. The condition features widespread hyperpigmented macules and mottled depigmentation, appearing in childhood and adolescence.

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    Area of Science:

    • Dermatology
    • Medical Genetics

    Background:

    • Dyschromatosis universalis is a rare genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules.
    • Previously documented primarily in Japanese and European populations.

    Observation:

    • Two brothers from Varanasi presented with a unique skin condition.
    • Hyperpigmented macules were noted from birth, increasing in number and size during childhood.
    • Mottled depigmentation emerged around age eight and progressed through adolescence.

    Findings:

    • This case represents the first documented instance of dyschromatosis universalis in the Indian subcontinent.
    • The clinical presentation in the affected brothers aligns with established descriptions of the disorder.

    Implications:

    • Highlights the potential for dyschromatosis universalis to occur in diverse ethnic groups.
    • Suggests the need for broader awareness and recognition of this genodermatosis in clinical practice.
    • Contributes to the understanding of the global distribution and phenotypic variability of dyschromatosis universalis.