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……     

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

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。     

迟发性皮肤卟啉症1例

1病历摘要 患者,男,67岁,头面部及双前臂手背泛发水疱、糜烂结痂2年。患者于前年开始出现头顶部及手背部瘙痒伴有水疱,搔抓后皮肤易出现水疱,皮疹恢复后遗留结痂及疤痕,皮疹反复出现并同时蔓延至面部和双前臂伸侧,自觉瘙痒剧烈,无季节性,日晒后加重。     

迟发性皮肤卟啉症1例

 报告1例迟发性皮肤卟啉症。患者男,38岁,面部色素沉着、多毛,双手背红斑、水疱、糜烂、结痂半年余。既往有饮酒史10余年,每天约3两,发现肝功能异常2年余,余系统检查未见异常。皮肤专科查体：面部多发、弥漫性褐色色素沉着斑,双侧颧部、眶周皮肤毳毛增多,双手背见大小不等红斑、水疱、糜烂、结痂,部分好转后遗留萎缩性瘢痕。皮损组织病理学示：表皮下水疱,真皮乳头血管周围见均质红染环状沉积,少量淋巴单核细胞浸润,PAS 染色示血管周围有PAS沉积,符合卟啉病皮肤改变。诊断：迟发性皮肤卟啉症。予烟酰胺片、β-胡萝卜素片口服及外用氧化锌软膏治疗后皮损好转。     

Subacute cutaneous lupus erythematosus with bullae associated with porphyria cutanea tarda

A 58‐year‐old patient presented with both annular and polycyclic as well as vesicular lesions. Histology revealed an interface dermatitis with focal hyperkeratosis and subepidermal blistering. Antinuclear antibodies were elevated (1 : 1280) and autoantibodies against Ro‐SS‐A were found. Based on these findings we made a diagnosis of subacute cutaneous lupus erythematosus (SCLE) with blister formation. Additionally, we diagnosed porphyria cutanea tarda (PCT) triggered by alcohol abuse. Treatment with systemic corti‐costeroids and low‐dose hydroxy‐chloroquine led to rapid resolution of the skin changes. SCLE with blister formation is a rare cause of bullous skin eruptions and has to be distinguished from bullous autoimmune diseases as well as from bullous SLE. Recognition of concomitant PCT, which may be associated with all forms of LE, is especially important because of the therapeutic implications, since a reduced dosage of antimalarials is required.     

Coexistence of porphyria cutanea tarda and lupus erythematosus

We report on the appearance of porphyria cutanea tarda in a patient with systemic LE and in two patients with discoid LE. A review is given on the corresponding literature. It is suggested that both lupus erythematosus and porphyria cutanea tarda have multifactorial inheritance. The cause of coexistence can be common genes responsible for the genetic determination which also predispose to the occurrence of both diseases. The question of etiology still remains obscure. This coexistence raises, however, a more practical question as regards the therapeutic modalities for the two diseases.     

亚急性皮肤型红斑狼疮伴纵行黑甲一例

患者,男,35岁。因躯干、四肢红斑、丘疹8个月于2015年5月20日就诊我科。8个月前患者无明显诱因躯干、四肢出现肿胀性红斑、花生米大红色丘疹、结节,部分皮疹排列成环形,伴瘙痒。皮疹以前胸及上肢为重,半月内可消退,但反复新发,于日晒及饮酒后加重。曾反复就诊于当地医院,服抗组胺药治疗,病情无明显改善。     

Coexistence of discoid lupus erythematosus and porphyria cutanea tarda.

A case of coexistent porphyria cutanea tarda and discoid lupus erythematosus is presented. Abnormal urinary porphyrins, the presence of liver fluorescence, chronic alcoholism, fatty metamorphosis of the liver and histologically typical LE with the demonstration of basement membrane fluorescence were present in the patient. Awareness of the possible coexistence of these two conditions is of practical significance for the practicing dermatologist. The nature of the relationship between these conditions remains obscure. Is it coincidental or does it represent a common pathophysiological mechanism? Further work on this unique pair of diseases seems indicated.     

A combination of porphyria cutanea tarda and discoid lupus erythematosus

A patient with discoid lupus erythematosus has developed porphyria cutanea tarda. The combination of these diseases may be explained by similar changes in the free-radical processes in the body, induced by sunlight.