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Recalcitrant extensive dermatophytosis in twin brothers with APECED syndrome
Aysha Najeeb1, Vishal Gaurav1, Pankhuri Dudani1
1Department of Dermatology & Venereology, All India Institute of Medical Sciences, New Delhi, India.
Abstract:
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent infections with Candida spp., often linked to primary immunodeficiencies. We report a case of two 8-year-old monozygotic twin brothers presenting with extensive dermatophytosis, later diagnosed with autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED) syndrome due to a homozygous p.M1V mutation in the AIRE gene. The twins exhibited widespread skin and nail infection, along with malabsorption, dental caries, and other autoimmune manifestations. This case highlights the novel presentation of extensive dermatophytosis in APECED, underscoring the variability in clinical expression even within a single family.
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