先天性红细胞生成性卟啉病一例报告

患者男,20岁.自3岁开始面部、前臂、手背部皮肤色素加深,面部毳毛增多加长,尿呈红葡萄酒色,牙齿为棕红色.随年龄增长,上述部位皮肤起水疱、大疱,疱液清,水疱吸收后,遗留萎缩性瘢痕,3~10岁时症状最重.皮损夏重冬轻,反复不愈.     

先天性红细胞生成性卟啉病一例

患者女,6岁。因头面部,双手、足背反复起水疱伴痒5年余,于2008年7月来我院住院诊疗。患者自出生后即发现尿为粉红色,头发稀疏,出牙即发现齿为粉红色,后逐渐变为棕红色。5月龄时面部、双手背、足背等暴光部位起米粒大小水疱,部分水疱逐渐增至黄豆或蚕豆大小,间或可见血疱。水疱1周左右可自行干涸,结痂,痂脱后中央遗留萎缩性瘢痕。但新发水疱不断出现,日晒后加重。此后每年春、夏季发作并加重,冬季好转至愈。1岁后10个指(趾)甲出现不同程度的上翘、剥离,部分趾甲完全脱落后新甲重新长出。2岁后双手指末端逐渐挛缩,末端指关节僵硬。既往未服用过四环素类药物。足月顺产,父母非近亲婚配。有一弟弟。家族中无类似疾病患者。 体格检查：发育较正常儿童滞后,智力正常。心肺无异常。脾左肋下4cm,质硬,光滑,肝未扪及。皮肤科情况：头皮、额部、颊部、鼻、手背、足背散在米粒至黄豆大小类圆形紧张性水疱,尼氏症阴性。并见较多萎缩性瘢痕,局部有深褐色厚痂。额面部、手背皮肤粗糙,呈淡褐色色素沉着。牙齿为棕红色。头发稀疏,眶周毳毛增粗增长,眉毛、睫毛乌黑浓密粗长。手指指端缩短变形,指(趾)甲不同程度剥离。实验室检查：WBC：5.3×109/L,RBC：4.32×1012/L,PLT：133×109/L,血红蛋白：108g/L,红细胞压积：30.4%,平均红细胞体积：70.4fl, 平均红细胞血红蛋白含量：25pg;尿液粉红色,尿卟啉定性试验：+,尿液镜检：红细胞+++,尿隐血：+++,尿蛋白：+++;肝功总蛋白：57.4 g/L;Wood灯检查：牙齿呈粉红色荧光;X线检查：双手末节指骨挛缩,掌骨、腕骨无异常;B超检查提示：脾大。肝、胆、胰、肾未见异常。诊断：先天性红细胞生成性卟啉病。     

红细胞生成性原卟啉症一例报告

患儿男,8岁.自2岁起在炎热季节逢日光曝晒后于面部、四肢等暴露部位经常红肿,严重时出现豆粒大小水疤,中央稍凹陷,愈后残留凹陷性疤痕.近2年来当日光曝晒后,患儿诉局部有烧灼刺痛感,约经5~10分钟后局部出现大小不等风团,伴搔痒.不需治疗,半小时后皮疹自行消退.     

红细胞生成性原卟啉病2例

皮肤卟啉病是血红素生物合成过程中因遗传缺陷或后天原因致使其中间产物-卟啉或卟啉前体的产生增多和排泄障碍，并在体内积聚而产生的一组以光敏性皮肤损害表现为主的疾病。临床少见。王见将我们遇到的2例红细胞生成性原卟啉病（erythropoietic protoporphyria，EPP）报道如下。     

先天性红细胞生成性卟啉病1例

患儿男，8岁。面颈部，双手反复出现水疱伴尿色发红7年余。面容呈老态，面部毳毛粗长，牙齿棕色（Wood灯下有粉红色荧光），指端毁形，暴露部位有较多萎缩性瘢痕，尿卟啉定性（ ），血卟啉定性（ -）。诊断为先天性红细胞生成性卟啉病。     

红细胞生成性原卟啉病1例

1临床资料患者男,8岁.面部、手背褐色样瘢痕3年.3年前不明原因面和手背瘙痒、灼热、疼痛,继而出现肿胀、红斑、丘疹,严重时可发展为水疱、糜烂结痂,以额部为重,常持续数周.     

红细胞生成性原卟啉病1例

红细胞生成性原卟啉症(Erythropoietic Proto-porphyria,EPP)是一种遗传性疾病。1953年Kosenew等首先报道1例“不典型的夏令水疱症”,其红细胞和粪中原卟啉水平增高。1961年Magnus等确定它为独立的卟啉症,并命名为EPP。现将我科诊治的一例EPP报告如下。1病历摘要患者男,35岁,诉皮肤接触阳光后出现灼伤并逐渐加重呈蜡样增厚20余年,于2005年10月来我院就诊。患者于15岁开始发病,初为皮肤接触阳光后出现灼伤感,疼痛剧烈,避光数日后病情好转,之后曝光部位皮肤逐渐蜡样增厚,并形成表浅的线形瘢痕及鹅卵石样皮肤。20年间多处求治但疗效甚微…     

红细胞生成性原卟啉病2例

红细胞生成性原卟啉病 (ｅｒｙｔｈｒｏｐｏｉｅｔｉｃｐｒｏｔｏｐｏｒｐｈｙｒｉａ,ＥＰＰ)是一种遗传性卟啉代谢障碍性疾病 ,于 196 1年由Ｍａｇｎｕｓ首先报道。由于病程为良性经过 ,同时与许多光敏性疾病有相似之处 ,临床上容易误诊 ,现将我科近期遇到的 2例ＥＰＰ报告如下。例 1,男 ,2 2岁 ,诉颜面、双手背及上肢反复红肿伴斑丘疹、血疱、结痂 ,部分已形成疤痕。发作时无明显季节差别 ,日晒后可加重皮疹。 7岁开始发病 ,病程约 15年左右 ,多次就诊为“光敏性皮肤病” ,15年来反复发作并予相应治疗 ,略有改善。近几年服用“β -胡萝卜…     

先天性红细胞生成性卟啉病1例

患儿男,6个半月。尿红5个月,皮损4个月入院。患儿出生至1个月内健康,满月后6～7天,因大便难解,到当地医生处服药治疗,(药名不详,家长猜测是磺胺与其它一些不知名药物研成粉末的混合剂),服药第2天,患儿开始出现红尿,小便看上去呈粉红色,无尿急、尿痛、发热等不适,患儿精神、食欲如常。起病20余天后,患儿颜面及双手背皮肤开始出现红斑、水疱,反复发作,愈后留下瘢痕。曾在当地医院先后以溶血性贫血诊断住院2次,用药不详,无好转。2003年3月26日转我院门诊,以尿红,皮疹原因待查收住院。     

先天性红细胞生成性卟啉病1例

1 病例资料 患者男,32岁,农民.因面部双手皮肤反复出现红斑、水疱、瘢痕形成伴痒痛30余年,于2020年8月9日来本院就诊入院.患者2岁左右在日晒后面、颈部皮肤出现红斑、水疱,水疱破溃后出现糜烂、结痂,部分糜烂面形成溃疡.皮损冬春好转,夏季日晒后加重.糜烂、溃疡面反复愈合后形成瘢痕、色素沉着及色素脱失,逐渐耳鼻软骨挛...     

先天性红细胞生成性卟啉病和迟发性皮肤卟啉病患者酶活性的研究

目的　研究和比较先天性红细胞生成性卟啉病（ Ｃ Ｅ Ｐ） 患者、迟发性皮肤卟啉病（ Ｐ Ｃ Ｔ） 患者和正常健康者的红细胞酶活性。方法　荧光分光光度法和反相高效液相色谱法。结果　 Ｃ Ｅ Ｐ 患者的红细胞尿卟啉原Ⅲ同合成酶（ Ｕ Ｒ Ｏ－ Ｃ Ｏ Ｓ） 的活性仅为正常健康者的１７ ％ ,而 Ｐ Ｃ Ｔ 患者的尿卟啉原Ⅰ脱羧酶（ Ｕ Ｒ Ｏ Ｄ） 活性仅为健康正常者的４９ ％ 。结论　 Ｕ Ｒ Ｏ－ Ｃ Ｏ Ｓ 和 Ｕ Ｒ Ｏ Ｄ 分别是引起 Ｃ Ｅ Ｐ 和 Ｐ Ｃ Ｔ 的主要损害部位。     

Successful Treatment of Congenital Erythropoietic Porphyria Using Matched Unrelated Hematopoietic Stem Cell Transplantation

Congenital erythropoietic porphyria (CEP), or Günther's disease, is an inborn error of metabolism produced by a deficiency of uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthesis pathway. This enzymatic defect induces the accumulation of isomer I porphyrins in erythrocytes, skin, and tissues, producing various clinical manifestations. Severe cases are characterized by extreme photosensitivity, causing scarring and mutilations, and by hemolytic anemia, reducing life expectancy. CEP is caused by mutations in the UROS gene, and one of the most severe forms of the disease is associated with a cysteine to arginine substitution at residue 73 of the protein (C73R). CEP has been successfully treated only by the transplantation of hematopoietic precursors. We report the case of a male infant with severe postdelivery symptoms diagnosed with CEP and found to be homozygous for the C73R mutation. He underwent successful allogeneic bone marrow transplantation from a matched unrelated donor at 7 months of age. The hemolytic anemia was corrected and the porphyrin overproduction was significantly reduced. The patient remained asymptomatic after 1 year. This new case confirms that patients with severe CEP can benefit from early postnatal hematopoietic stem cell transplantation.     

Erythropoietic Protoporphyria: A Report of the First South Australian Case

The first case of erythropoietic protoporphyria diagnosed in South Australia is presented. The clinical picture is of the “light-sensitive lipoid proteinosis” type. The diagnosis was considered in 1965 but discarded for lack of biochemical confirmation; it was established by skin biopsy in 1968, and subsequently confirmed by finding fluorescent erythrocytes and increased faecal protoporphyrin. An unusual feature is the' late onset at age 14.     

先天梅毒1例

患儿女,1个月。面部及四肢红斑水疱,伴脱屑20天。体检:一般情况良好。皮肤科情况:面部、双手、臀部及双足弥漫性潮红肿胀,部分表面呈鳞屑性或片状黄色痂皮。TRUST1:32(+),TPPA(+)。诊断:先天梅毒。予苄星青霉素G5万u/kg肌注,1次/w,治疗3次后,皮疹消退,复查血清TRUST(-)。     

A Case of Congenital Dacryocystocele

A 6-day-old infant presented with a deeply bluish cystic mass below the right medial canthus. She had been born healthy. Under the impression of a hemangioma brain computed tomography was conducted. As a result, a diagnosis of congenital dacryocystocele was made. We present this case to show that it is important for a dermatologist to correctly identify congenital dacryocystoceles and appropriately refer the infant to a pediatric ophthalmologist prior to performing invasive measures.     

迟发性皮肤咔啉病(附一例报告)

咔啉病是一组在咔啉一血红素生物合成过程中以咔啉或其前体的合成和排泄明显增加为特征的疾病.国内文献报道甚少,现将我们最近所见一例迟发性皮肤咔啉病报道茹下:患者女55岁.因乏力、面部手背色素沉着十余年拟诊阿狄森氏病,于1980年6月20日入本院内分泌病房.     

A Case of Congenital Leukemia Cutis

Congenital leukemia is a rare disease that develops from birth to 6 weeks of life. Leukemia cutis involves cutaneous infiltration by leukemic cells and is an unusual manifestation of leukemia, and has been documented in 25~30% of patients with congenital leukemia. The authors report a case of congenital leukemia cutis. A newborn male presented with widespread firm dusky red papules and nodules on almost his entire body surface. Skin biopsy specimens confirmed the presence of leukemic infiltrations, and bone marrow cytology was consistent with acute myeloid leukemia of the FAB M5 type.     

先天性皮脂腺痣1例

患儿男,45d。左侧额头、颊部、颞部和耳廓及下颌部出现淡红色斑块和丘疹45d。全部皮损组织病理学检查均提示皮脂腺痣。予手术切除皮损。现愈合良好,继续随访中。     

A Case of Congenital Leukemia Cutis

Congenital leukemia is a rare condition diagnosed at birth to 6 weeks of life with an estimated incidence of 4.7 per million live births. In a review, about 25~30% of cases were well documented as leukemia cutis. We report a case of a 3-month-old infant presented with asymptomatic multiple erythematous to bluish patches and nodules, which had developed about two months ago. Biopsy of the cutaneous lesions revealed immature cells which are overall monotonous with large kidney shaped nucleus, prominent nucleoli and moderate cytoplasm. These atypical cells stained positive for leukocyte common antigen, lysozyme and CD68. With this result, a congenital leukemia cutis was diagnosed. Six months later, she underwent cord blood stem cell transplantation. Seven months after the cord blood stem cell transplantation, the bone marrow examination revealed a normal result. Leukemia can be presented in the skin, the eruption may be nonspecific and it may precede systemic involvement. The recognition is important because early diagnosis can lead to appropriate treatment, followed by better prognosis.