无色素性色素失禁症并发白癜风

报告1例无色素性色素失禁症并发白癜风.患儿女,lO岁.出生后1年面部、躯干及左下肢出现色素减退斑.皮肤科检查:面部、躯干、左下肢见特殊形状的色素减退斑,部分色素减退斑呈旋涡状或泼墨状;左下肢及右胸部各有1枚钱币大界限清楚的色素减退斑.腰部皮损组织病理检查:表皮基底层见较多色素颗粒及个别黑素细胞,真皮未见明显炎性细胞浸润.     

色素失禁症1例

色素失禁症(incontinentia pigmenti)是一种累及多系统的X性连锁的显性遗传病,具有特征性皮肤损害,大多数患者有明确的家族史,女性发病较男性多.现报告1例. 患儿女,6个月.因躯干及四肢红斑、水疱伴色素沉着6个月,于2008年1月7日就诊于我科.患儿出生3 d后,四肢开始出现大小不等的红斑,散在分布,部分融合成条索状,部分红斑上出现大小不等的水疱,并逐渐向躯干蔓延.大部分红斑、水疱于1个月后从边缘开始逐渐消退,遗留小的红色结节或斑块,以及淡褐色网状色素沉着斑.病程中不断出现新发皮损,并蔓延至臀部、腹股沟及腰腹部,呈不规则线条状排列.患儿偶有烦躁不安.患儿系足月顺产,母乳喂养,父母非近亲结婚,家族中无类似疾病患者.     

色素失禁症1例

患儿女,10 个月.出生约40 d 后发现四肢特别是大腿、臀部出现呈不规则线条状分布的淡红斑,无自觉症状,未在意,未出现过水疱、大疱.2 个月后,淡红斑增多、扩大,波及躯干、四肢,色素逐渐加深呈褐色,呈不规则状或涡轮状,无结节、斑块.患儿系第1 胎,足月顺产,无宫内缺氧或窒息史,无传染病接触史及疫区生活史.父母健康,非近亲结婚.     

色素失禁症1例

1病历摘要 患儿女．4个月,因躯干、四肢红斑和水疱伴色素沉着4个月,于2005年7月来我科就诊．患儿出生1周后,四肢开始出现大小不等的片状或点滴状红斑,散在分布,部分融合呈条索状,部分红斑上出现大小不等的水疱,水疱不易破溃。红斑一般于1个月后从边缘开始逐渐消退．遗留小的硬块或结节．以及淡褐色网状色素沉着斑。病程中不断出现新发皮损,扩展至臀部、腹股沟及腰腹部,多呈带状分布,患儿偶有烦躁不安．夜间啼闹,患儿系足月顺产,母乳喂养,父母非近亲结婚,家族中无类似疾病患者。[第一段]     

色素失禁症1例

患儿女,2岁,哈萨克族.因皮肤色素沉着,运动发育滞后伴抽搐2年就诊,患儿系第3 胎第3 产,出生体重3.5 kg,父母非近亲结婚,母孕期无特殊服药史,未定期产检.追问病史:患儿出生第3 天出现抽搐,无发热,持续约1 min 后自行缓解,每天至少发作1 次.皮肤开始伴有黄豆大红斑、丘疹,逐渐起水疱,疱破溃结痂,痂皮脱落后形成色素沉着斑.患儿发育滞后,至今不会说话、坐姿不稳,不能行走.患儿家长否认家族中有类似疾病患者.     

色素失禁症1例

1临床资料患儿,女,4月,出生10天左右即开始出现红斑、水疱,于2006年12月3日就诊于我科。体格检查:一般情况良好,发育正常。皮肤科检查:全身泛发线状、奇异的纹状或涡轮状水肿性红斑、红色丘疹、丘疱疹、     

色素失禁症1例

患儿女,72d。躯干、四肢反复红斑、水疱伴色素沉着72d。皮肤科情况:躯干及四肢泼墨状和漩涡状褐色色素沉着斑,右手环指远节指骨和中指近节指骨及左手环指掌指关节伸侧、左足拇趾及中趾伸侧边界清楚深黄色疣状、突起较硬斑块。左手中指皮损组织病理示:表皮层局限性假上皮瘤样团块状增生,可见大量角化不良细胞;右小腿皮损组织病理示:表皮灶性基底层液化变性,色素失禁。诊断:色素失禁症。     

色素失禁症1例

患儿女,28天。出生时发现其躯干及四肢大量红色丘疹及小脓疱,反复发作,每隔5~6天,躯干四肢脓疱干涸结痂,遗留色素沉着,并在正常皮肤或红斑基础上又出现米粒至黄豆大小的红色丘疹,并逐渐变为脓疱。20余天后,新出现的脓疱数目逐渐减少,部分区域皮肤增厚粗糙,躯干、四肢开始出现网状色素沉着斑。     

男婴色素失禁症1例

患儿男,3个月。出生时全身出现淡红色斑,并在此基础上出现黄豆大水疱,水疱自然破溃后糜烂,次日糜烂即好转,无任何不适。头顶部有脱发区。1个月左右皮损消退,遗留色素沉着斑。1个半月时手、足先后出现疣状损害。患儿系足月剖宫产,出生体重3kg,母乳喂养。父母从事电脑工作,非近亲结婚。母亲产前身体健康,无流产及死胎史。家族中无类似疾病史。体格检查:患儿一般情况良好,发育正常。皮肤科检查:头顶部可见多     

小儿色素失禁症1例

患儿女 ,5个月。出生时四肢即有皮损 ,渐累及胸背部 ,为线状及片状红斑 ,后出现水疱、大疱 ,结痂脱落后留有不规则型或涡轮状褐色斑。临床表现及组织病理改变符合色素失禁症 ,同时合并双眼斜视、脐疝、抽搐及脑部损害 ,比较罕见。     

A Case of Incontinentia Pigmenti Associated with Multiorgan Abnormalities

Incontinentia pigmenti is a systemic disorder affecting the skin, teeth, eyes, nervous tissue, hair, nails, musculoskeletal system, and heart. We describe an 11-month-old girl with incontinentia pigmenti associated with a ventricular septal defect, left hemiatrophy, hemangiomas, an abnormal labial frenum, and spastic cerebral palsy manifested as left hemiplegia and developmental delay. We believe this patient illustrates that incontinentia pigmenti is a systemic disorder necessitating a multidisciplinary approach to management.     

色素失禁症38例分析

为了提高对色素失禁症的认识,分析了38例色素失禁症的临床和实验室资料。38例患者中,女37例,男1例。出生时已有皮疹者15例,出生后6周内发疹者22例,出生后62天出现皮疹1例。16例有色素失禁症家族史。36例有红斑、疱疹、疣状斑块和色素沉着,另2例出生时即见特征性色素斑。25例伴眼、牙齿和中枢神经系统等异常。7例红斑疱疹期患儿嗜酸粒细胞计数明显升高。6例无高热惊厥,其中4例查EEG,3例示高度失律波型。1例男性患儿染色体核型为47,XXY。7例皮肤活检标本均示色素失禁症之典型病理改变。多数学者认为本病是一种少见的性联显性遗传性疾病,最富特征之皮疹为躯干等处泼溅状、漩涡状等色素斑。目前尚无有效的产前诊断和特殊的治疗,对有家族史者作遗传咨询,指导优生。炎性疱疹期应预防继发感染,其它异常则应对症处理。     

A Case of a Surviving Male Infant with Incontinentia Pigmenti

Incontinentia pigmenti (Bloch-Sulzberger''s disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter''s syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manifestation in normal karyotype (46, XY) male infant.     

Destructive Encephalopathy in Incontinentia Pigmenti: A Case Report

We report a 2-day-old neonate with incontinentia pigmenti combined with destructive encephalopathy. Generalized seizures developed soon after birth; characteristic papulovesicles and hyperpigmented linear streaks appeared several days later. The brain CT scan showed multiple low density areas with cortical atrophy and ventricular enlargement. Histopathological examination favored the diagnosis of incontinentia pigmenti. Although a series of microbiological examinations failed to identify any infectious agent, the patient was still treated vigorously with anticonvulsants, systemic antibiotics, and acyclovir from the beginning of hospitalization. However, the seizures persisted, and the patient died 26 days after birth. Our report suggests that incontinentia pigmenti with encephalopathy may have a fatal prognosis.     

Incontinentia pigmenti

Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the lines of Blaschko: First phase - vesicles on an erythematous base; second phase - verrucous hyperkeratotic lesions; third phase - hyperchromic spots and fourth phase - hypochromic atrophic lesions.     

Incontinentia pigmenti: variable disease expression within an affected family

We report a florid case of incontinentia pigmenti in a neonate in which linear vesiculobullous, verrucous and pigmented lesions were present simultaneously at birth. Histology of a vesiculobullous lesion showed vesiculation with numerous eosinophils in the epidermis, and a sparse infiltrate in the dermis with pigmentary incontinence. The mother of our patient described a streaky linear rash on her legs during her own childhood which resolved spontaneously, in addition to partial anodontia, suggesting that she too has the disease, although previously undiagnosed. This emphasises the variable disease expression and the importance of recognising this condition so that patients can be followed up with regard to complications, and genetic counselling can be offered. The issue of prenatal diagnosis is discussed.     

Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis

Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainlyfemale neonates. The first manifestation occurs in the early neonatal period andprogresses through four stages: vesicular, verruciform, hyperpigmented andhypopigmented. Clinical features also manifest themselves through changes in theteeth, eyes, hair, central nervous system, bone structures, skeletal musculatureand immune system. The authors report the case of a patient with cutaneouslesions and histological findings that are compatible with the vesicular stage,emphasizing the importance of early diagnosis and appropriate therapeuticmanagement.