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

Abstract

Keratitis ichthyosis deafness (KID) syndrome is a rare genodermatosis with a high risk of cutaneous malignancy and infections. Infections can induce pseudocarcinomatous epidermal hyperplasia, leading to erroneous diagnosis of squamous cell carcinoma. We present a pediatric case of KID syndrome with vegetating plantar and acral candidiasis and highlight the importance of correct biopsy technique and clinicopathologic correlation in appropriate management.

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

“…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 ].…”

“…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 ].…”

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

“…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.…”

“…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.…”

Bilateral plantar plaques in a patient with Keratitis–ichthyosis–deafness syndrome

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