表皮痣综合征并发病态窦房结综合征1例并文献复习
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摘要
报告1例表皮痣综合征并发病态窦房结综合征。患儿女,6岁。出生后头部、面部、颈部、躯干及双足可见褐色斑块,皮损渐增大。皮肤科检查:头部、面部、颈部、躯干及双足可见带状及斑片状褐色疣状丘疹和斑块,部分沿Blaschoko线分布;口唇、颊黏膜及上颚可见疣状斑块。皮损组织病理检查:表皮角化过度,棘层增厚,表皮突延长,基底细胞色素增加;真皮浅层小血管周淋巴细胞浸润。心脏彩超提示窦房结功能障碍,存在慢快综合征。诊断:表皮痣综合征并发病态窦房结综合征。
A case of epidermal nevus syndrome complicated with sick sinus syndrome is reported. A 6 year-old girl presented with linear and patchy brown papules and verrucous plaques, some of which were along Blaschko's lines, on her head, face,neck, trunk and feet. Verrucous plaques were also observed on her lips, buccal mucosa and palate. Histopathological examination revealed hyperkeratosis, acanthosis, elongation of rete ridges, hyperpigmentation in the basal layer, and perivascular in filtration of lymphocytes in the upper dermis. Echocardiography showed sinus node dysfunction and tachy-brady syndrome, suggesting a diagnosis of sick sinus syndrome. According to the clinical, pathological and laboratory findings, a diagnosis of epidermal nevus syndrome complicated with sick sinus syndrome was made.
A case of epidermal nevus syndrome complicated with sick sinus syndrome is reported. A 6 year-old girl presented with linear and patchy brown papules and verrucous plaques, some of which were along Blaschko's lines, on her head, face,neck, trunk and feet. Verrucous plaques were also observed on her lips, buccal mucosa and palate. Histopathological examination revealed hyperkeratosis, acanthosis, elongation of rete ridges, hyperpigmentation in the basal layer, and perivascular in filtration of lymphocytes in the upper dermis. Echocardiography showed sinus node dysfunction and tachy-brady syndrome, suggesting a diagnosis of sick sinus syndrome. According to the clinical, pathological and laboratory findings, a diagnosis of epidermal nevus syndrome complicated with sick sinus syndrome was made.
引文
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[12]侍小换,魏羽佳,宋守荣,等.骨肥大静脉曲张综合征并发表皮痣综合征[J].临床皮肤科杂志,2010,39(6):353-355.
[13]Haberland-Carrodeguas C,Allen CM,Lovas JG,et al.Review of linear epidermal nevus with oral mucosal involvement series of five new cases[J].Oral Diseases,2008,14(2):131-137.
[14]Baliga V,Gopinath VP,Baliga S,et al.Intraoral manifestations in a patient with epidermal nevus syndrome[J].J Contemp Dent Pract,2013,14(4):762-765.
[2]Bygum A,Fagerberg CR,Clemmensen OJ,et al.Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation[J].BMC Med Genet,2011,12:79.
[3]Hafner C,López-Knowles E,Luis NM,et al.Oncogenic PIK3CAmutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern[J].Proc Natl Acad Sci USA,2007,104(33):13450-13454.
[4]Kuroda Y,Ohashi I,Enomoto Y,et al.A postzygotic NRAS mu tation in patient with Schimmelpenning syndrome[J].Am J Med Genet A,2015,167A(9):2223-2225.
[5]Groesser L,Herschberger E,Ruetten A,et al.Postzygotic HRASand KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome[J].Nat Genet,2012,44(7):783-787.
[6]Asch S,Sugarman JL.Epidermal nevus syndromes:new insights into whorls and swirls[J].Pediatr Dermatol,2018,35(1):21-29.
[7]Happle R.The group of epidermal nevus syndromes.PartⅠ.Well defined phenotypes[J].J Am Acad Dermatol,2010,63(1):1-22.
[8]Happle R.The group of epidermal nevus syndromes.PartⅡ.Less well defined phenotypes[J].J Am Acad Dermatol,2010,63(1):25-30.
[9]Vujevich JJ,Mancini AJ.The epidermalnevus syndromes:multisystem disorders[J].J Am Acad Dermatol,2004,50(6):957-961.
[10]Grebe TA,Rimsza ME,Richter SF,et al.Further delineation of the epidermal nevus syndrome:two cases with new findings and literature review[J].Am J Med Genet,1993,47(1):24-30.
[11]刘斌.表皮痣综合征一例[J].中华皮肤科杂志,2004,37(2):123-124.
[12]侍小换,魏羽佳,宋守荣,等.骨肥大静脉曲张综合征并发表皮痣综合征[J].临床皮肤科杂志,2010,39(6):353-355.
[13]Haberland-Carrodeguas C,Allen CM,Lovas JG,et al.Review of linear epidermal nevus with oral mucosal involvement series of five new cases[J].Oral Diseases,2008,14(2):131-137.
[14]Baliga V,Gopinath VP,Baliga S,et al.Intraoral manifestations in a patient with epidermal nevus syndrome[J].J Contemp Dent Pract,2013,14(4):762-765.