Montanari Alvise, Caroppo Francesca, Amabile Antonio, Belloni Anna Fortina, Bassetto Franco
Plastic Surgery Unit, Department of Neuroscience, University of Padua.
European Network for Rare Skin Disorders (ERN-Skin) Padua.
Dermatol Reports. 2024 Apr 16;16(4):9953. doi: 10.4081/dr.2024.9953. eCollection 2024 Nov 21.
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.
角膜炎-鱼鳞病-耳聋综合征（KID）是一种罕见的遗传性疾病，其特征为角化过度、鱼鳞病和先天性舌前感觉神经性耳聋三联征，文献报道的病例不足100例。除许多其他皮肤外表现外，这些患者还面临两个主要的皮肤相关风险因素：发生感染的风险和发生皮肤恶性肿瘤的风险，尤其是鳞状细胞癌和毛鞘瘤。我们报告了一例7岁女孩的病例，她具有迄今为止所描述的独特基因变异，出现了4个角化不良性新生物。由于皮肤镜检查不足以排除恶性肿瘤，因此进行了切除活检和钻孔活检。尽管如此，愈合仍具有挑战性，出现了伤口裂开和感染。为实现伤口完全愈合，采用负压疗法和先进的医用蜂蜜基敷料进行专门的伤口护理管理是必要的。
