Department of Pediatric Gastroenterology, Faculty of Medicine, Gazi University, Besevler, 06500, Ankara, Turkey.
Eur J Pediatr. 2011 Jun;170(6):803-5. doi: 10.1007/s00431-010-1368-3. Epub 2010 Dec 17.
Papillon-Lefevre syndrome (PLS) is an autosomal recessive disease that is characterized by symmetric palmoplantar keratodermatitis and severe periodontal destruction. Mutations in the cathepsin C gene (CTSC) have recently been detected in PLS. Immune dysregulation, due to a mutation in CTSC, increases the risk of pyogenic infections in PLS patients. A child with PLS is presented here with liver abscesses and peritonitis caused by Rhizopus oryzae. His liver abscess and peritonitis were cured with amphotericin B without surgical care. This is the first case in the literature liver abscess due to Rhizopus oryzae in a child with PLS.
原发性掌跖角化过度症（PLS）是一种常染色体隐性遗传病，其特征为对称性的手掌和足底角化过度和严重的牙周破坏。最近在 PLS 患者中发现组织蛋白酶 C 基因突变（CTSC）。由于 CTSC 的突变，导致免疫失调，增加了 PLS 患者发生化脓性感染的风险。本文报告了一例 PLS 患儿，因感染米根霉引起肝脓肿和腹膜炎。该患儿未接受手术治疗，仅使用两性霉素 B 治愈肝脓肿和腹膜炎。这是文献中首例 PLS 患儿因米根霉引起肝脓肿的病例。
