Cutaneous fusariosis caused by Fusarium lichenicola in a child with hyper‐immunoglobulin E syndrome

Abstract

Fusariosis is the second most common mold infection after aspergillosis, and keratomycosis is the most encountered implantation infection. Here, we report a case of a 4-year-old Han Chinese girl presenting with an itchy mass on her right face of almost 2 years' duration. Direct smear of the lesion sample was positive for fungal hyphae. Biopsy of the lesion showed many fungal hyphae in the epidermis and dermis. The pathogen was identified as Fusarium lichenicola by molecular sequencing and phylogenetic analysis based on the TEF-1a gene. Whole-exome sequencing analysis using her peripheral blood revealed a heterozygous mutation in the STAT3 gene, which is related to autosomal dominant hyper-immunoglobulin E syndrome (AD-HIES). The lesion improved following treatment with i.v. and intralesional amphotericin B, oral voriconazole and topical luliconazole cream. To our knowledge, this is the second reported case of a special localized cutaneous lesion caused by Fusarium species in a child with AD-HIES. Both cases suggest that STAT3 deficiency may increase susceptibility to fusariosis.

Successful Use of Fosmanogepix for Treatment of Rare Highly Resistant Cutaneous Fusariosis in a Pediatric Patient With STAT3 Hyper-Immunoglobulin E Syndrome and End-Stage Kidney Disease

“…Primary invasive cutaneous Fusarium infections have been described in STAT3 AD-HIES patients [ 1 , 23 ] who have impaired interleukin (IL)-17 expression and Th17 differentiation leading to defects in the immunological skin barrier. As opposed to the disseminated disease seen in neutropenic patients, the development of chronic, nonsystemic Fusarium skin disease in STAT3 AD-HIES is hypothesized to be due to impaired IL-17-dependent antimicrobial peptide generation at the keratinocyte level, resulting in infection confined to the skin [ 1 ].…”

Emergence of azole resistant-Aspergillus fumigatus infections during STAT3-deficiency

“…STAT3-deficient patients also have an increased susceptibility to other fungal infections, mostly chronic mucocutaneous candidiasis (CMC), but also pneumocystosis, fusariosis and endemic mycosis, including cryptococcosis, histoplasmosis and coccidioidomycosis [1,[29][30][31]. Therefore, azole resistance may also develop in these other fungal infections under long-term azole therapy.…”