Candidiasis–endocrinopathy syndrome with progressive myopathy

Richard A. Evans, John N. Carter, Bain Shenston, Arabella Smith, Ellen Hills, Ronald Walls, Alistair Corbett

    Research output: Contribution to journalArticle

    10 Citations (Scopus)

    Abstract

    A women suffering from the candidiasis-endocrinopathy syndrome, developed severe myopathy in her fourth decade and died from it at the age of 37 years. Associated conditions were hypoparathyroidism, vitiligo, chronic mucocutaneous candidiasis, short stature, intellectual disability, ovarian failure and alopecia totalis. Muscle biopsy findings were non-specific with focal atrophy of type 2 fibres. Serum immunoglobulin levels were normal. The only demonstrable abnormalities of her immune system were impaired T-cell function and antibody production by B-cells (detectable to smooth muscle, mitochondria and gastric parietal cells). The T-cell abnormality may have been part of a more generalized cell defect, resulting from an unidentified genetic abnormality, whilst the circulating antibodies could have been a response to tissue damage. There was no convincing evidence of primary autoimmune damage.

    Original languageEnglish
    Pages (from-to)139-144
    Number of pages6
    JournalQJM
    Volume70
    Issue number2
    DOIs
    Publication statusPublished - Feb 1989

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