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Pseudoxanthoma elasticum associated with Hashimoto's thyroiditis.

H Muratani, T Nakashima, M Ueno

    Japanese Journal of Medicine
    |July 1, 1982
    PubMed
    Summary

    This report details the first documented case of pseudoxanthoma elasticum (PXE) co-occurring with Hashimoto's thyroiditis, an autoimmune disorder. The patient presented with characteristic PXE symptoms and confirmed thyroiditis, suggesting a potential link between these conditions.

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    Area of Science:

    • Dermatology
    • Ophthalmology
    • Endocrinology
    • Immunology

    Background:

    • Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting elastic tissues.
    • Hashimoto's thyroiditis is a common autoimmune disease targeting the thyroid gland.
    • The association between PXE and autoimmune or immunological disorders is not well-established.

    Observation:

    • A 49-year-old female patient presented with classic cutaneous and ocular manifestations of PXE, including angioid streaks and subretinal bleedings.
    • The patient also exhibited a goiter, which upon histological examination, was diagnosed as Hashimoto's thyroiditis.
    • Positive antithyroidal autoantibodies confirmed the autoimmune nature of the thyroid condition.

    Findings:

    • This case represents the first reported instance of pseudoxanthoma elasticum (PXE) associated with Hashimoto's thyroiditis.

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  • While the patient's family had a history of PXE, no members showed signs of Hashimoto's thyroiditis, indicating a sporadic association in this individual.
  • The co-occurrence suggests a potential, previously unrecognized link between PXE and immunological disorders.

    • Implications:

    • This finding may prompt further research into shared genetic or immunological pathways between PXE and autoimmune diseases.
    • Understanding this association could lead to improved diagnostic strategies and patient management for individuals with PXE.
    • Further investigation is warranted to determine the prevalence and significance of immunological disorders in PXE patients.