Aamir Muhammad, Faizullah Fahad, Khan Malik W Z, Azeem Touba, Khan Muhammad Awais
Hayatabad Medical Complex, Peshawar, Pakistan.
Yale University School of Medicine, New Haven, USA.
Clin Med Insights Case Rep. 2025 May 27;18:11795476251342637. doi: 10.1177/11795476251342637. eCollection 2025.
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.
金德勒综合征（KS）是一种罕见的常染色体隐性遗传性皮肤病，由FERMT1基因突变引起，导致皮肤脆弱、水疱形成、光敏性和进行性皮肤异色症。我们报告了一例独特的KS病例，患儿为一名6岁男孩，其父母为近亲结婚，表现出不常见的皮肤和全身特征。患儿出生后出现多个红斑性斑块、出血性结痂和脓性分泌物，家族史提示存在遗传易感性。独特的是，患儿腹部出现边界清晰的色素沉着斑，这一特征在KS中很少见，增加了该病表型的多样性。此外，患儿有广泛的胎毛生长、指甲营养不良和牙龈炎，这些是KS的典型表现，但无泌尿系统或黏膜受累，与更典型的表现不同。患儿还出现糖耐量异常，血糖水平升高至222mg/dL，可能是由于感染引起的代谢失调，治疗后恢复正常。由于存在光敏性和皮肤脆弱等重叠特征，鉴别诊断最初考虑迟发性皮肤卟啉症（PCT）。然而，包括肝功能正常和缺乏特定PCT标志物在内的实验室检查结果有效排除了PCT。脓性分泌物的微生物拭子检测出金黄色葡萄球菌，该菌对所开抗生素敏感。治疗重点是使用抗生素缓解症状、提供支持性护理以及补充铁剂以治疗慢性皮肤糜烂引起的贫血。该病例突出了在无法进行基因检测的资源有限环境中的诊断挑战。它强调了提高对非典型KS表现的认识、临床评估和遗传咨询的重要性，并有助于扩大对KS的认识，特别是在近亲结婚人群中。
