Keratitis–ichthyosis–deafness syndrome accompanied by disseminated cutaneous fungal infection

Abstract

Keratitis–ichthyosis–deafness (KID) syndrome is a rare genodermatosis. It is mostly associated with mutations of the connexin 26 gene, resulting in keratitis, erythrokeratoderma and neurosensory deafness. In addition to the clinical triad, the KID syndrome patients are at high risk for infectious complications, while the mechanisms are poorly understood. In the present article, we described an Asian case of KID syndrome accompanied by fungal infection. The present study was designed to define the mutation type, and further to explore the interaction between the innate immunity response and the infectious complication of KID syndrome. Genomic DNA was extracted from peripheral blood for mutation analysis. Isolation and identification of the species were carried out to confirm the infectious microorganism. Three biopsy specimens from different parts of the body (right thigh, abdomen and forehead, respectively) were carried out for histopathological and immunohistochemical analysis. Furthermore, quantitative polymerase chain reaction (PCR) was carried out to study the expression of Toll-like receptor 2 (TLR2) on the epidermis of the right thigh. We identified a mutation (p.G12R) in the GJB2 gene in this patient with Trichophyton rubrum infection. Immunohistochemistry staining revealed a lower expression of TLR2 and no significant difference in TLR4. Meanwhile, PCR showed a relatively slight increase of TLR2 RNA expression. These results indicated that GJB2 mutation (p.G12R) in this case of KID syndrome, which was susceptible to T. rubrum infection, might be attributed to a limited native immune response.

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