Department of Pediatric Dentistry, Faculty of Dentistry, Cukurova University, Adana, Turkey.
Division of Pediatric Metabolism and Nutrition, Faculty of Medicine, Cukurova University, Adana, Turkey.
Int J Paediatr Dent. 2019 Jul;29(4):542-548. doi: 10.1111/ipd.12473. Epub 2019 Feb 27.
The causes for intrinsic tooth discoloration can be separated into two categories as systemic and local. Systemic causes are either genetic or drug-induced effects. The development of dentition can also be affected by a number of systemic factors and metabolic diseases such as porphyria. Congenital erythropoietic porphyria (CEP), also known as Gunther's disease, is a metabolic disease caused by a transformation in the gene that codifies uroporphyrinogen-3 synthesis, leading to porphyrin aggregation in urine, skin, bone, and dentin.
A 21-month-old girl with erythrodontia was referred to Paediatric Dentistry Department in September 2017. A physical examination revealed blisters on her face, nose, hands, and feet. Laboratory findings showed highly elevated urine total uroporphyrin and total coproporphyrin I and III levels. Next-generation sequencing multigene panel testing for porphyria demonstrated a homozygous c.10C>T (p.L4F) mutation in the UROS gene. For curative therapy, the patient was admitted to the allogeneic bone marrow transplantation program.
Congenital erythropoietic porphyria most commonly presents in the first few years of life. Manifestations can include reddish-colored urine, skin blistering, scarring, and erythrodontia. A timely diagnosis can prevent undesirable skin findings of the disease and death due to hematological involvement before a curative allogeneic bone marrow transplantation is performed.
内源性牙齿变色的原因可分为两类：系统性和局部性。系统性原因要么是遗传的，要么是药物引起的。牙齿的发育也可能受到许多系统性因素和代谢性疾病的影响，如卟啉症。先天性红细胞生成性卟啉症（CEP），也称为冈瑟病，是一种由编码尿卟啉原-3 合成的基因突变引起的代谢性疾病，导致卟啉在尿液、皮肤、骨骼和牙本质中聚集。
一名 21 个月大的女孩因牙釉质变色于 2017 年 9 月被转介至儿科牙科。体格检查显示面部、鼻子、手和脚有水泡。实验室检查发现尿液总尿卟啉和总粪卟啉 I 和 III 水平显著升高。卟啉症的下一代测序多基因 panel 检测显示 UROS 基因中的 c.10C>T（p.L4F）纯合突变。为了治愈治疗，患者被纳入异基因骨髓移植计划。
先天性红细胞生成性卟啉症最常见于生命的头几年。临床表现包括红色尿液、皮肤水疱、疤痕和牙釉质变色。及时诊断可以预防疾病的不良皮肤表现，并在进行治愈性异基因骨髓移植之前，因血液学受累而导致死亡。
