Chronic mucocutaneous candidiasis and primary hypothyroidism in two families.
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.


CONCLUSIONS
The link between hypothyroidism and chronic mucocutaneous candidiasis remains to be identified.
Department of Paediatrics, Akershus University Hospital, Nordbyhagen, Norway. anne.myhre@med.uib.no
Anne Grethe
AG
Myhre
Asbjørg
A
Stray-Pedersen
Steinar
S
Spangen
Eigill
E
Eide
Dag
D
Veimo
Per Morten
PM
Knappskog
Tore G
TG
Abrahamsen
Eystein S
ES
Husebye
D000483:Alleles; D002178:Candidiasis, Chronic Mucocutaneous / Q000097:blood / Q000150:complications* / Q000235:genetics; D004797:Enzyme-Linked Immunosorbent Assay; D005192:Family Health; D005260:Female; D005434:Flow Cytometry / Q000379:methods; D006683:HLA-DQ Antigens / Q000235:genetics; D059866:HLA-DQ beta-Chains; D006239:Haplotypes; D006801:Humans; D007037:Hypothyroidism / Q000097:blood / Q000150:complications* / Q000235:genetics; D007136:Immunoglobulins / Q000097:blood; D016130:Immunophenotyping / Q000379:methods; D007962:Leukocytes / Q000276:immunology / Q000378:metabolism; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree
D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D007136:Immunoglobulins