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Rothmund-thomson Syndrome.

M Z Mani, P S Sreekumari, A Chaterjee

    Indian Journal of Dermatology, Venereology and Leprology
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    Summary
    This summary is machine-generated.

    This report details a rare case of Rothmund-Thomson syndrome in an Indian child, highlighting unusual early-onset symptoms and characteristic skin and eye findings. The study emphasizes the importance of recognizing diverse clinical presentations of this genetic disorder.

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    Area of Science:

    • Genetics
    • Ophthalmology
    • Dermatology

    Background:

    • Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder.
    • It is characterized by poikiloderma atrophicans, photosensitivity, skeletal abnormalities, and an increased risk of malignancy.
    • Ocular manifestations, including cataracts and corneal opacities, are also common.

    Observation:

    • A case of RTS in an 8-year-old Indian male is presented.
    • The patient exhibited bilateral symmetrical superficial pigmentary deposition in the lower cornea and conjunctiva.
    • Disease onset occurred at 8 days, primarily affecting hands and feet, with ulcerations after minor trauma.

    Findings:

    • Urinary chromatography revealed excretion of dibasic amino acids: arginine, lysine, cystine, and glycine.
    • The patient presented with characteristic skin findings and ocular pigmentary deposition.
    • Early onset and unusual distribution of initial symptoms were noted.

    Implications:

    • This case expands the understanding of RTS phenotypic variability, particularly in non-European populations.
    • Early diagnosis and management of RTS are crucial due to potential complications.
    • Further research into the genetic and biochemical underpinnings of RTS is warranted.