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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11694414PMC
http://dx.doi.org/10.4081/dr.2024.9953DOI Listing

Publication Analysis

Top Keywords

keratitis-ichthyosis-deafness syndrome
8
wound care
8
care management
8
risk developing
8
suspect dyskeratotic
4
dyskeratotic neoformations
4
neoformations 7-year-old
4
7-year-old child
4
child keratitis-ichthyosis-deafness
4
syndrome diagnostic
4

Similar Publications

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 PDF

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 PDF

Cancer and hidradenitis suppurativa.

Clin Dermatol

December 2024

DermSurgery Associates, Sugar Land, Texas, USA.

Article Synopsis
  • * Factors like smoking, prolonged lesions, and certain treatments (like TNF-alpha inhibitors) may increase the risk of developing squamous cell carcinoma in these patients.
  • * There is a need for careful monitoring of new or rapidly changing lesions in hidradenitis suppurativa patients, as they can mimic or hide underlying cancers, necessitating prompt medical evaluation.
View Article and Find Full Text PDF

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 PDF
Article Synopsis
  • The study aimed to assess the effectiveness and safety of mycophenolate mofetil (MMF) in treating ocular surface inflammatory diseases through a retrospective analysis of patient records from March 2020 to March 2022.
  • Fourteen patients participated, primarily diagnosed with ocular mucous membrane pemphigoid and those requiring limbal allograft transplantation, with results showing significant improvement and stability in most cases treated with MMF.
  • The treatment proved generally safe, with only minor side effects like constipation and nausea reported, indicating that MMF could be a promising first-line systemic treatment for these eye conditions.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!