Encephalitis in two members of a family with Incontinentia pigmenti (Bloch-Sulzberger syndrome)

The Bloch-Sulzberger syndrome of Incontinentia pigmenti (I.p.) was observed in 3 generations of one family. The grandmother and mother of 3 sisters with I.p. showed solely the typical skin lesions and no associated ectodermal abnormalities.At the age of 2 years the eldest girl with I.p. suffered from encephalitis after vaccination against smallpox. Four months later, having fully recovered, the patient suddenly deteriorated and developed generalized seizures and signs of increased intracranial pressure. She died 12 h after right temporal decompression. Neuropathological examination of the brain revealed acute hemorrhagic encephalopathy involving predominantly the white matter and leading to massive edema. In addition, there were residual signs of a perivenous encephalitis in the central and subcortical white matter of the forebrain. Signs of malformation or developmental abnormalities were absent.The second girl with I.p. experienced an afebrile convulsion 3 weeks after the first injection of diphtheria and tetanus toxoid. At the age of 2 1/4 years, one week after an upper respiratory tract infection, she developed an encephalitis which resulted in severe neurological sequelae.The third girl with I.p. suffered from an afebrile convulsion without proof of encephalitis at the age of 4 months.The pathogenesis of the CNS disorders which are frequently associated with I.p. is not yet known, but the history of neurologic lesions in this family suggests that inflammatory processes may play an important role in their evolution.     

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。     

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。     

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.     

The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization

Probes for restriction fragment length polymorphisms mapping between Xp21 and Xq22.3 have been used in a linkage study of incontinentia pigmenti (IP). Six independent sporadic cases of disorders resembling IP with X-autosome translocations involving the same X chromosome breakpoint (Xp11) have been reported. These observations suggest that the IP gene may be located in the Xp11 chromosomal region. However, the linkage study with DNA probes has failed to confirm this localisation.     

Pilocytic astrocytoma with leptomeningeal spread in a patient with incontinentia pigmenti presenting with unilateral nystagmus

Incontinentia pigmenti (IP) is a genetic disorder caused by mutations in IKBKG, leading to functional loss of nuclear factor kappa B (NF‐?B). We report the case of a 6‐month‐old female child with IP who presented with unilateral nystagmus and was found to have a pilocytic astrocytoma with leptomeningeal spread. Enhanced understanding of the relationship between NF‐?B, along with its upstream regulators, and tumorigenesis may shed light on whether a subset of patients with IP may be at increased risk for neoplasia.