Patients present with an early onset of superficial candidiasis affecting nails and mouth and occasionally the oesophagus. Generally, a history of recurrent or persistent superficial candidal infections of the oral cavity (thrush) or intertriginous or periorificial areas. Infants often present with recalcitrant thrush and/or candidal diaper dermatitis. These infections can be followed by more extensive scaling of skin lesions, as well as thickened nails and red swollen periungual tissues. Infections are typically unresponsive to routine topical antifungal preparations. Some patients also have an endocrinopathy causing hypocalcaemia due to parathyroid insufficiency, hypothyroidism, and adrenal insufficiency. Increased susceptibility to bacterial infections, tuberculosis, herpesviruses, and toxoplasmosis. Severe forms may progress to a more generalized combined immunodeficiency.
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- Treatment with topic and systemic antimycotic drugs (fluconazole or itraconazole) results in temporary recovery, but is unable to reach complete remission. Promising results with Amphotericine B. Resistence to these antifungals may occur. Intravenous immunoglobulins should be used for patients with recurrent bacterial infections. Continuous antibiotics tend to exacerbate the candidiasis. A regular surveillance for significant endocrine disease is essential to mantain.
- Candidiasis, Chronic Mucocutaneous, eMedicine