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伴斑点状色素沉着的单纯性大疱性表皮松解症1例国内首报 被引量：3

Epidermolysis Bullosa Simplex with Mottled Pigmentation:The First Case Report in China
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摘要 患儿男,15岁。躯干、四肢反复发生水疱和大疱,伴色素沉着和色素减退15年。皮损组织病理示:棘层下部棘细胞间裂隙和陈旧性表皮内水疱,部分基底细胞液化或空疱变性及基底层色素增加,真皮血管周围多数淋巴和嗜酸粒细胞浸润。直接免疫荧光检查阴性。透射电镜下超微结构示角质形成细胞间水肿,基底细胞内裂隙和空泡形成,并见大量张力微丝排列为均质化团块,部分呈漩涡状;基底细胞及细胞间可见黑素小体。诊断:单纯性大疱性表皮松解症,斑点状色素沉着。经云南省医学信息研究所查证证实该例为国内首例报道。 A 15-year-old boy presented with a 15-year history of vesicles,bulla,hyperpigmentation and hypopigmentation on trunk and extrimeties.Skin biopsy revealed intraepidermal split and blisters,the basal cells appeared vacuolated and focal hyperpigmentation in places with an inflammatory infiltrate.In the dermis there were peri capirally infiltrations of eosinophils and lymphocytes.Direct immunofluorescence revealed no deposition of IgG,IgA,IgM and C3.Transmission electron microscopy revealed many round tonofilament clumps were present within the basal cells.Some of the basal keratinocytes contained mature melanosomes.The case is diagnosed as Epidermolysis bullosa simplex with mottled pigmentation （EBS-MP） according to the clinical feature,histopathological,direct immunofluorescent and ultrastructure fingings.This is an extremely uncommon case.It was comfirmed that the EBS-MP is the first case report in China by medical information institute of Yunnan Province.
作者 刘彤云 杨汝斌 万屏 刘玲 何黎
机构地区 昆明医学院第一附属医院皮肤科
出处 《中国皮肤性病学杂志》 CAS 北大核心 2010年第4期321-323,共3页 The Chinese Journal of Dermatovenereology
关键词 单纯性大疱性表皮松解症 斑点状 色素减退 色素沉着 Epidermolysis bullosa simplex Mottled pigmentation Hypopigmentation Hyperpigmentation
分类号 R751 [医药卫生—皮肤病学与性病学]
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参考文献12

  • 1Fischer T,Gedde-Dahl TJ.Epidermolesis bullosa simplex and mottled pigmentation:A new dominant syndrome[J].Clin Genet,1979,15(3):228-238.
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同被引文献18

  • 1Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa ( EB ) : report of the third international consensus meeting on diagnosis and classification of EB [ J ]. J Am Acad Dermatol, 2008,58 (6) :931 - 950.
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  • 3Hamada T,Ishii N,Kawano Y,et al. The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mot- tled pigmentation [ J ]. Br J Dermato1,2004,150 ( 3 ) : 609 - 611.
  • 4Irvine AD, Rugg EL, Lane EB, et al. Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation[ J]. Br J Dermatol,2001,144( 1 ) : 40 -45.
  • 5Whittock NV, Sher C, Gold 1, et al. A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel [ J ]. Genet Med, 2003,5 (6) : 435 - 439.
  • 6Zhou C, Song S, Zhang J. A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome [J]. Br J Dermatol,2009,160(5) : 1119 - 1122.
  • 7Gerkowiez A, Trueb RM. Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation [ J ]. Inter J Tricol, 2014,6(2) : 80 -82.
  • 8Uttam J, Hutton E, Coulombe PA, et al. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation [ J ]. P Natl Acad Sci USA, 1996,93 ( 17 ) : 9079 - 9084.
  • 9Geller L, Kristal L, Morel KD. Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy[J]. Pediatr Dermatol,2013,30(5) : 631 -632.
  • 10Eeheverria-Garcia B, Vicente A, Hernandez A, et al. Epidermolysis bullosa simplex with mottled pigmentation: a family report and review [ J]. Pediatr Dermatol,2013,30(6) : e125 - 131.

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二级引证文献6

中国皮肤性病学杂志
2010年 第4期

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