Al Harbi Mariam S, El-Hattab Ayman W
Department of Pediatrics, Tawam Hospital, P.O. Box 15258, Al-Ain, UAE.
Division of Clinical Genetic and Metabolic Disorders, Tawam Hospital, P.O. Box 15258, Al-Ain, UAE.
Case Rep Dermatol Med. 2017;2017:8915608. doi: 10.1155/2017/8915608. Epub 2017 Sep 26.
Protein C is an anticoagulant that is encoded by the gene. Protein C deficiency (PCD) is inherited in an autosomal dominant or recessive pattern. Autosomal dominant PCD is caused by monoallelic mutations in and often presents with venous thromboembolism. On the other hand, biallelic mutations lead to autosomal recessive PCD which is a more severe disease that typically presents in neonates as purpura fulminans. In this report, we describe an 8-month-old infant with autosomal recessive PCD who presented with multiple lumps on his lower extremities at the age of 2 months and later developed purpura fulminans after obtaining a muscle biopsy from the thigh at the age of 5 months. Protein C level was less than 10% and gene sequencing identified a novel homozygous missense mutation, c.1198G>A (p.Gly400Ser). Autosomal recessive PCD typically presents with neonatal purpura fulminans which is often fatal if not recognized and treated early. Therefore, early recognition is critical in preventing morbidity and mortality associated with autosomal recessive PCD.
蛋白C是一种由该基因编码的抗凝剂。蛋白C缺乏症（PCD）以常染色体显性或隐性模式遗传。常染色体显性PCD由该基因的单等位基因突变引起，常表现为静脉血栓栓塞。另一方面，双等位基因突变导致常染色体隐性PCD，这是一种更严重的疾病，通常在新生儿中表现为暴发性紫癜。在本报告中，我们描述了一名患有常染色体隐性PCD的8个月大婴儿，该婴儿在2个月大时下肢出现多个肿块，5个月大时从大腿进行肌肉活检后发展为暴发性紫癜。蛋白C水平低于10%，基因测序鉴定出一种新的纯合错义突变，c.1198G>A（p.Gly400Ser）。常染色体隐性PCD通常表现为新生儿暴发性紫癜，如果不及早识别和治疗往往会致命。因此，早期识别对于预防与常染色体隐性PCD相关的发病和死亡至关重要。
