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。     

脱色性色素失禁症1例

患儿男,5岁。面部、躯干、四肢出现色素减退斑5年。皮肤科情况:面部、躯干、四肢可见特殊形状的色素减退斑,大多数白斑呈线状或旋涡状,边界清楚。激光共聚焦扫描显微镜检查(手臂):与周围皮肤对照,浅色斑区基底层色素减少,基底细胞环大致存在,部分基底环可见点状缺失,真皮乳头及浅层可见少许嗜黑素细胞及稀疏炎细胞浸润。诊断:脱色性色素失禁症。     

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。     

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.     

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。     

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.     

A Case of Vitiligo after Kawasaki's Disease

Vitiligo is a common skin disease, but its pathogenesis has not been fully determined, though an autoimmune etiology is considered likely. Kawasaki disease (KD) is an acute multisystem vasculitis of childhood associated with coronary arteriopathy, and is diagnosed based on clinical criteria. Furthermore, vitiligo has been associated with several other diseases, but no report has been issued about the relationship between vitiligo and Kawasaki''s disease. The author''s report the case of an 8-year-old male child that presented with depigmented lesions, which developed from the desquamative skin lesions of Kawasaki''s disease.     

A Case of Kikuchi's Disease Presenting with Unique Facial Involvement

Kikuchi''s disease (KD), or histiocytic necrotizing lymphadenitis, is a rare, self-limited lymphadenopathy, typically in young women, that usually remits spontaneously and does not recur. KD is clinically characterized by cervical lymphadenopathy and a high fever. Extranodal involvement (skin, arthritis, meningitis) rarely occurs. When KD is involved in a skin lesion, it presents with various shapes, but rarely manifests with symmetrically distributed, erythematous, firm nodules only on the face. In this report, we describe a patient with KD and unique skin manifestations.     

A Case of Sweet's Panniculitis Associated with Spinal Metastasis from Prostate Cancer

Sweet''s panniculitis is a rare variant of Sweet''s syndrome in which neutrophilic infiltrate can be found either in the subcutaneous fat or in both the dermis and the subcutaneous tissue. Due to the rarity of this entity, the association between Sweet''s panniculitis and malignancies is inconclusive, but cases of Sweet''s panniculitis have largely been associated with hematological malignancies. Herein, we present a case of Sweet''s panniculitis accompanied by bone metastasis from prostate cancer. Clinicians should be aware that Sweet''s panniculitis may be associated with malignancies of solid organs.     

A Case of Pigmented Mammary Paget's Disease

Pigmented mammary Paget''s disease is a uncommon clinicopathologic variant of mammary Paget''s disease, and this mimics malignant melanoma both clinically and histopathologically. Herein, we report on a rare case of pigmented mammary Paget''s disease. An 81-year-old woman presented with 2.5×1 cm sized, red and brown, eczematous plaque on her right areola, and she''d had this lesion for 3 years. Histopathology showed large, atypical cells with large nuclei and abundant pale cytoplasm throughout the epidermis. Dispersed melanocytes were noted in the epidermis and some of the Paget''s cells contained melanin within their cytoplasm. Immunohistochemical studies demonstrated that the intraepidermal pagetoid cells were positive for cytokeratin 7; in contrast, they were negative for S-100, Periodic-acid Schiff (PAS), Alcian blue at PH 2.5, HMB-45 and carninoembryonic antigen (CEA). We recommend that pigmented mammary Paget''s disease should be included in the differential diagnosis of pigmented lesions on the nipple.     

Hypomelanosis of Ito: a case report with clinical and ultrastructural data

Hypomelanosis of Ito (HI) is an uncommon skin disorder characterized by the presence of hypochromic areas associated with visceral abnormalities, the most common being neurological, muscular, skeletal and ocular. The authors describe a typical case of hypomelanosis of Ito in a 7-year-old child. The patient was obese, suffered from scoliosis, flat feet and had a bilateral genu valgus. No neurological, ophthalmological or dental malformations were noted. An electron microscopic study of a hypomelanotic area showed decreased functional activity in the melanocytes, which contained only a few rudimentary cytoplasmatic projections and poorly developed organelles. In addition, there was a reduction in the number of mature melanosomes.     

A Case of Gardner's Syndrome Associated with Desmoid Tumor

Desmoid tumors are uncommon benign neoplasm of the fibroblasts. They occur rarely in the general population, but they are comparatively common in patients with familial polyposis coli with or without other elements of Gardner''s syndrome. Herein, we report a 16-year-old woman with Gardner''s syndrome complicated by desmoid tumors on the right subscapular area.     

色素失禁症随访10年1例

患儿女 ,初诊 3月龄 ,出生时即有皮损。临床表现及组织病理改变符合色素失禁症。但红斑、水疱及疣状损害至 1岁时仍未消退 ,5岁时仅为褐色斑 ,直至 8岁时褐色斑完全消失。     

Incontinentia pigmenti in a Male Infant with Klinefelter Syndrome: A Case Report and Review of the Literature

Abstract: Incontinentia pigmenti, also known as Bloch–Sulzberger syndrome, is a hereditary, X‐linked dominant disorder characterized by abnormalities of skin, hair, teeth, eyes, and the central nervous system. It is classically considered a male‐lethal disorder leading to recurrent miscarriages of male fetuses. We report a rare case of a surviving baby boy with the classic clinical features of incontinentia pigmenti that can be explained by Klinefelter syndrome.     

Extramammary Paget's Disease of External Genitalia with Bowenoid Features

Extramammary Paget''s disease (EMPD) is an uncommon intraepithelial adenocarcinoma, primarily affecting the apocrine-bearing skin. Bowen disease is an intraepithelial squamous cell carcinoma having the potential to become invasive carcinoma. The histopathological concomitant features between EMPD and Bowen disease have been described. One theory is that primary EMPD arises multicentrically, within the epidermis from the pluripotent stem cells. Herein, we describe a case of EMPD that had bowenoid features, and review the previous cases associated with the origin of EMPD.     

A Case of Linear Lichen Planus Pigmentosus

Lichen planus pigmentosus (LPP) is chronic pigmentary disorder that shows diffuse or reticulated hyperpigmented, dark brown macules on the sun-exposed areas such as the face, neck and other flexural folds. Clinically, it is different from classical lichen planus because LPP has a longer clinical course and it manifests with dark brown macules. In case of LPP, involvement of the scalp, nail or mucosal area is rare. The histopathological findings of the lesions show an atrophic epidermis, the presence of melanophages and a vacuolar alteration of the basal cell layer with a sparse lymphohistiocytic lichenoid infiltration. Although there have been a few reports of LPP, there have only 3 cases of linear LPP along the lines of Blaschko in the Korean dermatologic literature. Our patient had lesions on the neck and chin with a linear pattern. In this report, we describe a very rare case of LPP with a linear distribution related to Blaschko''s lines on the neck and chin areas.     

46-XY型色素失禁症伴中枢神经系统受累一例

患儿男,3岁。因躯干部色素斑伴痒2年余就诊于我院皮肤科门诊。追问病史,患儿于出生后2周躯干部出现红斑,上有水疱呈线状排列,皮损此起彼伏,迁延不断,1个月后逐渐消退,继水疱后在原有皮损部位出现形状不规则褐色疣状丘疹。12个月时患儿四肢无规律性经常抽动伴有喂乳困难,持续数秒,可自行缓解,发作无规律,就诊于儿科门诊诊断为“癫痫”。患儿智力明显落后于同龄人,2岁多能说简单话,不能连成句,2岁半会走,至今34个月仍步态不稳。患儿无高热或外伤史。父母非近亲结婚,否认家族中类似疾病发病史……