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81.
《Pediatric Dental Journal》2014,24(3):173-177
Hypomelanosis of Ito (HI) is a rare neuroectodermal disorder characterized by hypopigmented whorls of skin along the Blaschko lines. Mental retardation and intractable epilepsy are also commonly observed in HI. However, there are only a few published reports describing dental observations in HI patients. Here, we report the oral management and novel dental findings of a male HI patient aged 3 years and 10 months. The chief complaint was spontaneous gingival bleeding due to gingival hyperplasia induced by anticonvulsants, which was improved with plaque control and gingival massage. Numerous additional dental abnormalities were also evident, including enamel hypoplasia and large pulpal chambers. 相似文献
82.
无色素性色素失禁症并发白癜风 总被引:1,自引:0,他引:1
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. 相似文献
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Introduction Incontinentia pigmenti is a rare, X-linked dominant multisystem genodermatosis that presents at or soon after birth with characteristic
cutaneous signs. The main features occur in the skin where a blistering rash occurs in the newborn period, followed by the
blisters becoming raised-like warts. After the skin, the central nervous system is the next most affected system.
Case report We report a female infant who was born with vesicular eruptions who was initially thought to have congenital herpes simplex
virus infection.
Conclusion This case report emphasises that incontinentia pigmenti should be included in the differential diagnosis of cutaneous blistering
lesions and central nervous system involvement in neonates.
This case was presented in part at the 22nd International Symposium on Neonatal Intensive Care, Milan, Italy, October, 2006. 相似文献
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Osamu Fujino Kiyoshi Hashimoto Takehisa Fujita Hisashi Enokido Hideki Komatsuzaki Goro Asano Junichi Sato Yoshio Morimatsu 《Brain & development》1995,17(6):425-427
A clinico-neuropathological study of a Japanese girl with hypomelanosis of Ito, one of the neurocutaneous syndromes, is reported. At birth, typical skin hypopigmentation on the trunk and a hypopigmented streak on the left lower extremity were noted. From 2 months of age, intractable convulsions occured and EEG showed various abnormalities. Psychomotor development was severely retarded and she died of pneumonia at the age of 13 months. Neuropathological examination revealed brachycephaly, micropolygyria and asymmetry of lateral ventricles. A histological examination showed a disarray of cortical lamination, and the existence of nerve cells in the white matter. These pathological findings showed a migration anomaly during brain maturation. 相似文献
89.
The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization 总被引:6,自引:0,他引:6
Ann Harris Shelley Lankester Eric Haan Judith Beres Maj Hulten Judit Szollar Linda Soutter Martin Bobrow 《Clinical genetics》1988,34(1):1-6
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. 相似文献
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