一名患有角膜炎-鱼鳞病-耳聋综合征的 7 岁儿童的疑似角化不良新生畸形:诊断、手术和伤口护理管理

IF 2.3 Q2 DERMATOLOGY Dermatology Reports Pub Date : 2024-04-16 DOI:10.4081/dr.2024.9953
Alvise Montanari, F. Caroppo, Antonio Amabile, Anna Fortina Belloni, Franco Bassetto
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引用次数: 0

摘要

角膜炎-鱼鳞病-耳聋综合征(KID)是一种罕见的遗传性疾病,以角化过度、鱼鳞病和先天性舌前感音神经性耳聋三联症为特征,文献中描述的病例不足 100 例。除了许多其他皮肤外的表现外,这些患者还面临两个主要的皮肤风险增加因素:感染风险和恶性皮肤肿瘤(尤其是鳞状细胞癌和三叶虫瘤)风险。我们介绍了一例 7 岁女孩的病例,她患有迄今为止所描述的一种独特的基因变异,并出现了 4 种角化不良新生畸形。由于皮肤镜检查不足以排除恶性肿瘤,因此采用了切除和打孔活检。然而,伤口愈合非常困难,出现了伤口开裂和感染。为了使伤口完全愈合,必须采用负压疗法和先进的医用蜂蜜敷料进行伤口护理。
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Suspect dyskeratotic neoformations in a 7-year-old child with keratitis-ichthyosis-deafness syndrome: diagnostic, surgical and wound care management
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 honey-based dressings was necessary to achieve complete wound healing.
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来源期刊
Dermatology Reports
Dermatology Reports DERMATOLOGY-
CiteScore
1.40
自引率
0.00%
发文量
74
审稿时长
10 weeks
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