Chronic Mucocutaneous Candidiasis

Snapshot

• A 7-year-old presents to the pediatrician with a “white tongue.” On physical exam, he has notable thrush in his oral mucosa. His past medical history includes chronic diaper rash as a baby. It is otherwise unremarkable. Physical exam shows malformed nails on two fingers, consistent with onychomycosis. Labs are within normal limits. He is started on fluconazole.

Introduction

• Primary immunodeficiency from dysfunction of T-cells
• Recurrent infections with noninvasive Candida albicans
• May also be susceptible to other bacterial and viral infections
• Genetics
  • familial autosomal recessive
  • sporadic autosomal dominant
• Pathogenesis
  • absent T-cell proliferation
  • autoimmune regulator deficiency (AIRE) 
• Associated conditions
  • autoimmune diseases
• notably endocrinopathies

Presentation

• Symptoms due to C. albicans infection of the following
  • skin
  • oral mucosa
    • thrush
  • nails 
• diaper area in infants

Evaluation

• All patients should be evaluated for other immunodeficiencies
  • CBC (normal in chronic mucocutaneous candidiasis [CMC])
  • Ig levels (normal in CMC)
• Absent in vitro response of T-cells to Candida antigen
• Absent cutaneous reaction to Candida antigen
• Genetic testing for mutations

Differential Diagnosis

• SCID 
• Immunodeficiency caused by HIV

Treatment

• Chronic therapy with fluconazole

Prognosis, Prevention, and Complications

• Prognosis
  • normal
• Complications
  • severe lung infections
  • sepsis