Keratitis-ichthyosis-deafness syndrome (KID) is a rare genetic disorder characterized by the triad of hyperkeratosis, ichthyosis, and congenital prelingual sensorineural deafness, with less than 100 cases described in the literature. In addition to many other extra-cutaneous manifestations, these patients are burdened by two principal increased risk factors involving the skin: the risk of developing infections and the risk of developing malignant skin tumors, especially Squamous Cell Carcinoma and Trichilemmal tumors. We present the case of a 7-year-old girl with a unique genetic variant described to date, who developed 4 dyskeratotic neoformation. Since the dermatoscopic examination was not sufficient to exclude malignancy, excisional and punch biopsies were used. Nonetheless, healing was challenging, with wound dehiscence and infection onset. Ad hoc wound care management resorting to negative pressure therapy and advanced medical honeybased dressings was necessary to achieve complete wound healing.
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http://dx.doi.org/10.4081/dr.2024.9953 | DOI Listing |
Dermatol Reports
November 2024
Plastic Surgery Unit, Department of Neuroscience, University of Padua.
Keratitis-ichthyosis-deafness syndrome (KID) is a rare genetic disorder characterized by the triad of hyperkeratosis, ichthyosis, and congenital prelingual sensorineural deafness, with less than 100 cases described in the literature. In addition to many other extra-cutaneous manifestations, these patients are burdened by two principal increased risk factors involving the skin: the risk of developing infections and the risk of developing malignant skin tumors, especially Squamous Cell Carcinoma and Trichilemmal tumors. We present the case of a 7-year-old girl with a unique genetic variant described to date, who developed 4 dyskeratotic neoformation.
View Article and Find Full Text PDFJ Gen Physiol
November 2024
Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, USA.
Connexins (Cxs) function as gap junction (GJ) channels and hemichannels that mediate intercellular and transmembrane signaling, respectively. Here, we investigated the proximal segment of the first extracellular loop, E1, of two closely related Cxs, Cx26 and Cx30, that share widespread expression in the cochlea. Computational studies of Cx26 proposed that this segment of E1 contains a parahelix and functions in gating.
View Article and Find Full Text PDFClin Dermatol
December 2024
DermSurgery Associates, Sugar Land, Texas, USA.
Methods Mol Biol
April 2024
Institute of Biochemistry and Cell Biology, Italian National Research Council, Rome, Italy.
In this chapter, we provide detailed instructions to perform quantitative reflectance imaging in a mouse model of a rare epidermal disorder caused by hyperactive connexin 26 hemichannels. Reflectance imaging is a versatile and powerful tool in dermatology, offering noninvasive, high-resolution insights into skin pathology, which is essential for both clinical practice and research. This approach offers several advantages and applications.
View Article and Find Full Text PDFMiddle East Afr J Ophthalmol
January 2024
Department of Ophthalmology, Ege University Faculty of Medicine, Izmir, Turkey.
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