Vegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome

Calderón-Castrat, Ximena; Vega-Zuñiga, Julio; Velásquez, Felipe; Ballona, Rosalía

doi:10.1111/pde.13069

Cited by 6 publications

(8 citation statements)

References 4 publications

(6 reference statements)

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“…The determinants of the transition from a commensal form to a pathogen at this interface include fungal virulence factors and alterations in the host defense mechanism. Selective defects in epithelial barrier integrity may permit CMC development based on its occurrence in the rare genodermatosis, keratitis, ichthyosis, and deafness (KID) syndrome [ 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 ]. KID syndrome, due to heterozygous mutations in the Gap junction beta-2 ( GJB2 ) gene that encodes connexin-26 (Cx26), is complicated by chronic skin infections in approximately half of reported cases, with CMC being the most common [ 16 , 18 , 19 ].…”

Section: Candidiasismentioning

confidence: 99%

“…Selective defects in epithelial barrier integrity may permit CMC development based on its occurrence in the rare genodermatosis, keratitis, ichthyosis, and deafness (KID) syndrome [ 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 ]. KID syndrome, due to heterozygous mutations in the Gap junction beta-2 ( GJB2 ) gene that encodes connexin-26 (Cx26), is complicated by chronic skin infections in approximately half of reported cases, with CMC being the most common [ 16 , 18 , 19 ]. Cx26 is a member of the connexins family, which oligomerize to form hemichannels in epidermal keratinocytes that either become functional channels at the plasma membrane or form gap junction channels by partnering with a hemichannel from an adjacent cell [ 20 ].…”

Section: Candidiasismentioning

confidence: 99%

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Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Vinh

2023

Pathogens

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In medical mycology, the main context of disease is iatrogenic-based disease. However, historically, and occasionally, even today, fungal diseases affect humans with no obvious risk factors, sometimes in a spectacular fashion. The field of “inborn errors of immunity” (IEI) has deduced at least some of these previously enigmatic cases; accordingly, the discovery of single-gene disorders with penetrant clinical effects and their immunologic dissection have provided a framework with which to understand some of the key pathways mediating human susceptibility to mycoses. By extension, they have also enabled the identification of naturally occurring auto-antibodies to cytokines that phenocopy such susceptibility. This review provides a comprehensive update of IEI and autoantibodies that inherently predispose humans to various fungal diseases.

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Section: Candidiasismentioning

confidence: 99%

Section: Candidiasismentioning

confidence: 99%

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Vinh

2023

Pathogens

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“…It is probable that type 17 immunity is not the exclusive pathway governing susceptibility to CMC. Indeed, in the dermatological world, the Keratitis, Ichthyosis, and Deafness (KID) syndrome, an inborn error (genodermatosis) of epithelial barrier integrity due to heterozygous mutations in connexin‐26 (Cx26, encoded by GJB2 ) is clinically associated with increased risk of CMC 93–96 . How this intersects with type 17 immunity, if at all, remains to be well deciphered.…”

Section: Candidiasismentioning

confidence: 99%

“…clinically associated with increased risk of CMC. [93][94][95][96] How this intersects with type 17 immunity, if at all, remains to be well deciphered.…”

Section: Acute Invasive Candidiasis (Aic) Has Historically Been Reportedmentioning

confidence: 99%

From Mendel to mycoses: Immuno‐genomic warfare at the human–fungus interface

Vinh

2023

Immunological Reviews

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SummaryFungi are opportunists: They particularly require a defect of immunity to cause severe or disseminated disease. While often secondary to an apparent iatrogenic cause, fungal diseases do occur in the absence of one, albeit infrequently. These rare cases may be due to an underlying genetic immunodeficiency that can present variably in age of onset, severity, or other infections, and in the absence of a family history of disease. They may also be due to anti‐cytokine autoantibodies. This review provides a background on how human genetics or autoantibodies underlie cases of susceptibility to severe or disseminated fungal disease. Subsequently, the lessons learned from these inborn errors of immunity marked by fungal disease (IEI‐FD) provide a framework to begin to mechanistically decipher fungal syndromes, potentially paving the way for precision therapy of the mycoses.

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“…There is also an increased risk for squamous cell carcinoma and malignant trichilemmal tumours. As such, long‐term follow‐up is essential 1,5 …”

Section: Figurementioning

confidence: 99%