迟发性皮肤卟啉病一例

47岁男性患者,面颈部、背部、双上肢红斑、丘疹、水疱伴瘙痒5个月余,日晒及饮酒后加重。肝功能显示转氨酶升高,尿Wood灯下呈珊瑚红色荧光。皮损组织病理：表皮下水疱形成,疱内无炎性细胞浸润,真皮下层胶原纤维增生,间有黏蛋白沉积。免疫荧光未见荧光物质沉积。全基因组外显子测序未见相关基因突变。诊断：迟发性皮肤卟啉病。给予羟氯喹、复方甘草酸苷治疗后病情缓解,随访6个月未见复发。     

迟发性皮肤卟啉病1家系报告

报告一家系迟发性皮肤卟啉病。先证者女,43岁。颜面、双耳、颈部及双手背部反复出现水疱、结痂,伴瘙痒20年,日晒后即感瘙痒加重。手背组织病理示:表皮下水疱,胶原束增厚,真皮有均质性嗜伊红物质。PAS染色阳性。Wood灯下呈亮粉色荧光。诊断:迟发性皮肤卟啉病。     

迟发性皮肤卟啉症一例

患者女,41岁。因面颈部、四肢出现皮疹伴痒1年余就诊。患者1年前无明显诱因面颈部、双手足背部皮肤呈褐色,无痒痛等自觉症状,日晒后出现散在的芝麻至黄豆大小水疱,伴瘙痒,有糜烂、结痂、脱落,留有凹陷性瘢痕。皮肤碰及硬物后易擦破。皮损反复发作,夏重冬轻,恢复缓慢。曾到当地医院就诊,诊断为多形性日光疹,治疗（药物不详）效果不明显。无明显乏力及关节酸软等症状。未留意尿液颜色有无变化,无其他全身不适。患者平素体健,无长期服药史及饮酒史。父母非近亲结婚,家族中无类似皮肤病史……     

红细胞生成性原卟啉病一家系基因突变分析

目的 探讨红细胞生成性原卟啉病一家系的临床表现及基因突变的特点.方法 收集家系先证者及其他成员的临床资料,对先证者及其家系中部分成员进行Wood灯及基因测序检查.结果 先证者婴幼儿期发病,皮损表现为面部、手背部红斑、丘疹、糜烂、结痂,局部可见蜡样增厚,并形成浅表的线形瘢痕,其父亲和姑姑有类似症状.Wood灯下先证者舌为...     

迟发性皮肤卟啉病1例

迟发性皮肤卟啉病（porphyria cutanea tarda，PCT）系尿卟啉原脱羧酶的代谢缺陷所致，是最常见的卟啉病，可分为两型，一型为散发型，另一型为家族型。在临床上表现为一种光敏性皮肤病，（30～40）岁时发生水疱、大疱，多毛和色素沉着是其特征，亦称为慢性肝型卟啉病（chronic hepatic porphyria）、症状性卟啉病（symptomatic porphyria）和特应性卟啉病（idiosyneratic porphyria）^[1]。我科最近发现1例患者，经临床表现、病理和相关实验室检查确诊为迟发性皮肤卟啉病，现报告如下。     

迟发性皮肤卟啉症

报告1例迟发性皮肤卟啉症.患者男,52岁.曝光部位出现红斑及水疱1年余.既往酗酒30年.皮肤科检查:面部、双手背红斑及多发色素沉着斑,左手背见花生米大水疱.皮损组织病理示表皮下水疱和毛虫小体;尿卟啉阳性;诊断为迟发性皮肤卟啉症.予保肝、戒酒及避光后皮损好转.     

迟发性皮肤卟啉病1例

患者男,51岁.面、颈、双手水疱、糜烂、瘢痕形成3个月.肝功能显示转氨酶升高,血清总卟啉水平升高,尿Wood灯下显示粉红色荧光,组织病理示:表皮下裂隙,真皮炎性反应稀疏.诊断为迟发性皮肤卟啉症(PCT).予复方甘草酸苷治疗后病情缓解.     

迟发性皮肤卟啉病1例

迟发性皮肤卟啉病（porphyria cutanea tarda，PCT）属于红细胞系疾病。其临床特点为慢性皮肤损害，起病缓慢，症状轻重不一轻者仅皮肤发红，重背出现大小不一的水疱，可以是血性的，皮肤糜烂，结痂或形成溃疡，最后形成瘢痕。笔者见到1例现报道如下。     

迟发性皮肤卟啉症一例

患者,男,23岁。面颈部及双手背红斑、水疱、破溃2年,光敏感性和皮肤脆性增加,摩擦后加重。家族中无类似病史。血卟啉阴性;尿卟啉阳性;抗核抗体阴性。通过直接测序的方法对患者UROD基因10个外显子进行测序,未发现有害致病突变。组织病理示表皮下水疱形成,真皮上部血管内及血管壁周围糖蛋白沉积。诊断迟发性皮肤卟啉症,给予羟氯喹200 mg每日两次。     

Relationship between Porphyria Cutanea Tarda (PCT) and Viral Hepatitis

Recent reports have revealed the high prevalence of serological markers of viral hepatitis in porphyria cutanea tarda (PCT). We present two cases of PCT associated with hepatitis C and discuss the relationship between PCT and viral hepatitis. Case 1: A 50-year-old Japanese male noticed blisters, erosions, and fragility on sun-exposed areas of his skin in November of 1990. He had no history of excessive alcohol intake. He had been taking analgesics for eighteen years. Case 2: A 64-year-old Japanese male was referred in October of 1989 because of pigmentation on sun-exposed areas of his skin. He had been drinking alcohol excessively for 43 years. The hepatitis C virus (HCV) antibody was present in each case. Tests for the HCV antibody and hepatitis B serological markers were run in 5 other patients. HCV antibody was present in 3 of them. The two cases negative for the HCV antibody exhibited the hepatitis B antibody. We speculated that viral hepatitis infection may play an important role in precipitating PCT in cases with a history of a long term excessive intake of alcohol or chemicals.     

A first report of porphyria cutanea tarda successfully treated with glycyrrhizin

Porphyria cutanea tarda (PCT) is a condition that affects liver and skin by reduction of hepatic uroporphyrinogen decarboxylase activity. It is characterized by blistering lesions, erosions and crusts on sun‐exposed areas. We report a 51‐year‐old male presenting with recurrent episodes of bullae, erosions, and crust on his neck and dorsum of the hands for 3 months. Aspartate aminotransferase, alanine aminotransferase, gamma‐glutamyl transferase, alkaline phosphatase, lactate dehydrogenase levels, as well as total plasma porphyrin and urinary uroporphyrin levels were elevated. Based on the clinical manifestations, the history and laboratory findings, a diagnosis of PCT was made. The cutaneous and biochemical abnormalities of the patient improved with therapy of glycyrrhizin.     

遗传性对称性色素异常症DSRAD基因的一个新突变

目的检测遗传性对称性色素异常症(DSH)家系中的DSRAD基因突变情况,探讨DSH的基因型与表型的关系。方法收集2个DSH家系的临床资料,提取外周血DNA,应用PCR扩增DSRAD基因编码区的全部外显子及其侧翼序列并测序,分别检测2个家系中的患者及正常人,并选取50例无关正常人做对照。结果发现全部患者均存在DSRAD基因的杂合突变,家系1中所有患者的DSRAD基因第12内含子剪切位点突变c.3203-2AC(IVS12-2AC);家系2中所有患者的DSRAD基因缺失突变c.2433_2434delAG。但该两家系中的正常人及50例正常对照者未发现上述突变。结论此两个DSH家系中存在DSRAD基因的特异性突变,其可能使编码蛋白功能缺陷,导致皮肤色素异常。     

斑驳病患者KIT基因突变的检测

目的:研究斑驳病患者中KIT基因突变,为该病的基因诊断及治疗奠定基础。方法:调查2个斑驳病家系,其中家系1共有10名成员,4人为斑驳病患者;家系2共有8名成员,3人为斑驳病患者。对患者及其家系中健康人的KIT基因进行测序,并选择同时期100例来本院进行健康体检的志愿者进行对照分析。结果:患者均表现为先天性白斑和白色额发,且白斑数目随年龄增长而增加,白斑形状从开始时的三角形或棱形逐渐融合成大片,分布从开始时的前额逐渐分布至四肢、关节、躯干,白斑面积达体表总面积60%以上。测序结果表明,两个家系中7例患者存在同样的突变,即KIT基因的第12位外显子中的第1 861位碱基发生改变,从鸟嘌呤(G)突变成腺嘌呤(A),导致621位氨基酸残基从缬氨酸变成了苏氨酸,而家系中健康人及对照组在此位点不存在该基因突变。扩增21个外显子,全部扩增成功,其他外显子未发现突变情况。结论:斑驳病患者中存在KIT基因突变。     

Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene

BACKGROUND: Porphyria cutanea tarda (PCT) results from decreased hepatic uroporphyrinogen decarboxylase (UROD) activity. In the majority of patients, the disease is sporadic (S-PCT or type I) and the enzyme deficiency is limited to the liver. Familial PCT (F-PCT or type II) is observed in 20-30% of patients in whom mutations on one allele of the UROD gene reduce UROD activity by approximately 50% in all tissues. Another variant of PCT (type III) is characterized by family history of the disease although it is biochemically indistinguishable from S-PCT. OBJECTIVES: To investigate the molecular basis of PCT in Spain and to compare enzymatic and molecular analysis for the identification of patients with F-PCT. METHODS: Erythrocyte UROD activity measurement and mutation analysis of the UROD gene were carried out in a cohort of 61 unrelated Spanish patients with PCT and 50 control individuals. Furthermore, each novel missense mutation identified was characterized by prokaryotic expression studies. RESULTS: Of these 61 patients, 40 (66%) were classified as having S-PCT, 16 (26%) as having F-PCT and five (8%) as having type III PCT. Discordant results between enzymatic and molecular analysis were observed in two patients with F-PCT. In total, 14 distinct mutations were found, including 10 novel mutations: five missense, one nonsense, three deletions and an insertion. Prokaryotic expression of the novel missense mutations demonstrated that each results in decreased enzyme activity or stability. CONCLUSIONS: These results confirm the high degree of molecular heterogeneity of F-PCT in Spain and emphasize the usefulness of molecular genetic analysis to distinguish between F-PCT and S-PCT.     

遗传性对称性色素异常症一家系DSRAD基因的突变

目的检测一个遗传性对称性色素异常症家系中的DSRAD基因突变情况。方法收集了一个遗传性对称性色素异常症家系的外周血标本,用聚合酶链反应(PCR)扩增DSRAD基因的全部15个外显子并测序,检测家系中的患者及正常人和100例无关正常人的DSRAD基因。结果家系中所有患者的DSRAD基因存在外显子3的杂合缺失突变:c.1615delG。家系中的正常人及100例无关正常人未发现此突变。结论发现DSH家系患者DSRAD基因的一个新的突变。     

斑驳病c-kit基因突变检测

目的研究一斑驳病家系先证者的基因突变情况。方法经组织病理、电镜检查结合典型的临床特征确立斑驳病的诊断。采用聚合酶链反应及DNA直接测序的方法对此家系进行基因突变检测。结果家系中先证者存在k it基因第2565位G→C,使密码子TGT→TCT,导致Ser862Cys突变。100例健康对照组不存在此突变。结论Ser862Cys是引起该家系临床表型的原因。