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Chronic mucocutaneous candidiasis and primary hypothyroidism in two families

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Abstract

We describe the clinical and immunological features of two families with chronic mucocutaneous candidiasis (CMC) and primary hypothyroidism. Family A includes three siblings with both candidiasis and hypothyroidism and four individuals with hypothyroidism only. Family B includes four members with candidiasis, of whom one (a male child) also had hypothyroidism. All individuals affected with CMC had suffered from oral candidiasis and onychomycosis since infancy. Facial seborrhoic dermatitis, general folliculitis and scaling blepharitis were main manifestations. Hypothyroidism became evident during childhood. No thyroid antibodies were present in the affected siblings in family A, while the male in family B with hypothyroidism had antibodies against thyroid peroxidase at diagnosis. Immunological evaluation revealed intra-individual variations in serum immunoglobulin levels, lymphocyte subsets and proliferative responses, but there were no consistent abnormalities. Vaccine responses were normal. AIRE gene region microsatellite markers did not segregate with disease nor were autoantibodies typical for autoimmune polyendocrine syndrome type 1 detected in the families. Conclusion: the link between hypothyroidism and chronic mucocutaneous candidiasis remains to be identified.

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Abbreviations

AADC :

aromatic l -amino acid decarboxylase

APS 1 :

autoimmune polyendocrine syndrome type 1

CMC :

chronic mucocutaneous candidiasis

GAD :

glutamic acid decarboxylase

MBL :

mannose-binding lectin

17OH :

17α-hydroxylase

21OH :

21-hydroxylase

SCC :

side-chain cleaving enzyme

TG-Ab :

anti-thyroglobulin antibodies

TPO-Ab :

anti-thyroperoxidase antibodies

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Acknowledgements

We thank Anette Bøe, Elin Theodorsen, Wencke Trovik, and Kristin Moen for help with the antibody assays. Our thanks are due to Hanne E. Akselsen and Dag E. Undlien, Institute of Immunology, Rikshospitalet University Hospital for the HLA typing. Kari Storhaug, Nina Skogedal and Tony Axell at the Resource Centre for Oral Health in Rare Medical Conditions are thanked for the oral examinations.

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Author notes

  1. Anne Grethe Myhre

    Present address: Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, 5021 , Bergen, Norway

Authors and Affiliations

  1. Department of Paediatrics, Akershus University Hospital, Nordbyhagen, Norway

    Anne Grethe Myhre

  2. Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, Bergen, Norway

    Eystein S. Husebye

  3. Department of Paediatrics, Rikshospitalet University Hospital, Oslo, Norway

    Asbjørg Stray-Pedersen & Tore G. Abrahamsen

  4. Department of Paediatrics, Ålesund Hospital, Ålesund, Norway

    Steinar Spangen

  5. Department of Medicine, Ålesund Hospital, Ålesund, Norway

    Eigill Eide

  6. Department of Paediatrics, Nordland Hospital, Bodø, Norway

    Dag Veimo

  7. Centre of Medical Genetics and Molecular Medicine, Haukeland University Hospital, Norway

    Per Morten Knappskog

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  1. Anne Grethe Myhre
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Correspondence to Anne Grethe Myhre.

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Myhre, A.G., Stray-Pedersen, A., Spangen, S. et al. Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. Eur J Pediatr 163, 604–611 (2004). https://doi.org/10.1007/s00431-004-1516-8

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  • DOI: https://doi.org/10.1007/s00431-004-1516-8

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