Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review.

IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL
Clinical Medicine Insights. Case Reports Pub Date : 2025-05-27 eCollection Date: 2025-01-01 DOI:10.1177/11795476251342637
Muhammad Aamir, Fahad Faizullah, Malik W Z Khan, Touba Azeem, Muhammad Awais Khan
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Abstract

Kindler Syndrome (KS) is a rare, autosomal recessive genodermatosis caused by mutations in the FERMT1 gene, leading to skin fragility, blistering, photosensitivity, and progressive poikiloderma. We present a unique case of KS in a 6-year-old boy born to consanguineous parents, exhibiting uncommon dermatological, and systemic features. The patient developed multiple erythematous plaques, hemorrhagic crusting, and purulent discharge after birth, with a family history suggesting genetic predisposition. Uniquely, the patient presented with well-demarcated hyperpigmented macules on the abdomen, a feature rarely seen in KS, which adds to the phenotypic diversity of the condition. Additionally, the patient had extensive lanugo hair growth, nail dystrophy, and gingivitis, typical of KS, but without urinary or mucosal involvement, a departure from more classic presentations. The patient also presented with glucose intolerance, indicated by elevated glucose levels of 222 mg/dL, likely due to infection-induced metabolic dysregulation, which normalized after treatment. The differential diagnosis initially considered porphyria cutanea tarda (PCT) due to overlapping features like photosensitivity and skin fragility. However, laboratory findings, including normal liver function and the absence of specific PCT markers, effectively excluded PCT. Microbiological swabs from purulent discharge identified Staphylococcus aureus, which was sensitive to the prescribed antibiotics. Management focused on symptomatic relief with antibiotics, supportive care, and iron supplementation to address anemia caused by chronic skin erosions. The case highlights diagnostic challenges in resource-limited settings where genetic testing was unavailable. It underscores the need for heightened awareness of atypical KS manifestations, the importance of clinical evaluation and genetic counseling, and contributes to the expanding knowledge of KS, particularly in populations with consanguineous marriages.

典型儿童金德勒综合征的独特皮肤病学和全身表现:一个病例报告和文献复习。
Kindler综合征(KS)是一种罕见的常染色体隐性遗传病,由FERMT1基因突变引起,可导致皮肤脆弱、起泡、光敏和进行性皮炎。我们提出一个独特的情况下,KS在一个6岁的男孩出生的近亲父母,表现出罕见的皮肤病学和系统的特点。患者出生后出现多发红斑斑块、出血性结痂和脓性分泌物,家族史提示遗传易感性。独特的是,患者在腹部表现出界限清晰的色素沉着斑,这是KS中罕见的特征,这增加了该疾病的表型多样性。此外,患者有广泛的毛毛生长,指甲营养不良,牙龈炎,典型的KS,但没有泌尿或粘膜受累,与更经典的表现不同。患者还出现葡萄糖耐受不良,葡萄糖水平升高至222 mg/dL,可能是由于感染引起的代谢失调,治疗后恢复正常。鉴别诊断最初考虑的是迟发性皮肤卟啉症(PCT),原因是光敏性和皮肤脆性等重叠特征。然而,实验室检查结果,包括肝功能正常和缺乏特异性PCT标记物,有效地排除了PCT。化脓性分泌物的微生物拭子鉴定出金黄色葡萄球菌,该球菌对处方抗生素敏感。治疗的重点是用抗生素、支持性护理和补铁来缓解症状,以解决慢性皮肤糜烂引起的贫血。该病例突出了在资源有限的环境中无法进行基因检测的诊断挑战。它强调需要提高对非典型KS表现的认识,临床评估和遗传咨询的重要性,并有助于扩大KS的知识,特别是在有近亲婚姻的人群中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Clinical Medicine Insights. Case Reports
Clinical Medicine Insights. Case Reports MEDICINE, GENERAL & INTERNAL-
CiteScore
1.10
自引率
0.00%
发文量
57
审稿时长
8 weeks
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