白色海绵状斑痣病例报道及文献复习
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摘要
目的探讨白色海绵状斑痣的病因、临床表现、诊断及治疗方法,为临床诊疗提供参考。方法对1例发生于口腔的白色海绵状斑痣病例的临床资料及相关文献进行回顾性分析。结果白色海绵状斑痣是一种罕见的常染色体显性遗传病,可有家族病史,患者的角蛋白基因K4(Keratin 4)与K13(Keratin 13)突变被认为是主要病因。该病多始发于儿童及青少年,在成年后趋于稳定,表现为黏膜上广泛白色水波样褶皱,质地柔软,以双侧颊黏膜好发,病理检查通常显示病变部上皮细胞角化过度,棘层细胞内水肿与空泡性变,而基底层细胞大致正常。在临床上需与口腔白斑病、口腔扁平苔藓、口腔念珠菌病等疾病相鉴别。目前尚无特异性治疗方法,常以局部涂抹维A酸,应用漱口水保持口腔卫生清洁为主,患者若无自觉症状也可不予治疗。该病预后良好,无恶变倾向。结论白色海绵状斑痣因较为罕见,易被临床医生忽视,诊断主要依靠病史询问、临床表现和病理检查,今后的研究方向应致力于寻找更为有效的治疗手段。
Objective To explore the etiology,clinical manifestation,diagnosis and treatment of white spongy spot nevus,so as to provide reference for clinical diagnosis and treatment.Methods The clinical data and related literature of a case of white cavernous nevus in oral cavity were retrospectively analyzed.Results White spongy nevus is a rare autosomal dominant hereditary disease with a family history.The mutations of keratin gene K4 and K13 in patients with white spongy nevus are considered to be the main causes.The disease usually starts in children and adolescents and tends to be stable in adulthood.It is characterized by extensive white water-wave folds on the mucosa,soft texture,and affects the bilateral buccal mucosa.Pathological examination usually shows excessive keratosis of epithelial cells,edema and vacuolation in spinous cells,while basal cells are generally normal.In clinic,it should be differentiated from oral leukoplakia,oral lichen planus and oral candidiasis.At present,there is no specific treatment method.Retinoic acid is often applied locally and gargle is used to keep oral hygiene and cleanliness.Patients can not be treated without conscious symptoms.The prognosis of the disease is good and there is no tendency of malignancy.Conclusion White spongy nevus is very rare and easily missed by clinicians.Diagnosis mainly depends on medical history,clinical manifestations and pathological examination.Future research directions should be devoted to finding more effective treatment.
Objective To explore the etiology,clinical manifestation,diagnosis and treatment of white spongy spot nevus,so as to provide reference for clinical diagnosis and treatment.Methods The clinical data and related literature of a case of white cavernous nevus in oral cavity were retrospectively analyzed.Results White spongy nevus is a rare autosomal dominant hereditary disease with a family history.The mutations of keratin gene K4 and K13 in patients with white spongy nevus are considered to be the main causes.The disease usually starts in children and adolescents and tends to be stable in adulthood.It is characterized by extensive white water-wave folds on the mucosa,soft texture,and affects the bilateral buccal mucosa.Pathological examination usually shows excessive keratosis of epithelial cells,edema and vacuolation in spinous cells,while basal cells are generally normal.In clinic,it should be differentiated from oral leukoplakia,oral lichen planus and oral candidiasis.At present,there is no specific treatment method.Retinoic acid is often applied locally and gargle is used to keep oral hygiene and cleanliness.Patients can not be treated without conscious symptoms.The prognosis of the disease is good and there is no tendency of malignancy.Conclusion White spongy nevus is very rare and easily missed by clinicians.Diagnosis mainly depends on medical history,clinical manifestations and pathological examination.Future research directions should be devoted to finding more effective treatment.
引文
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[16]Aghbali A,Pouralibaba F,Eslami H,et al.White sponge nevus:a case report[J].Dent Res Dent Clin Dent Prospects,2009,3(2):70-72.
[17]Marrelli M,Tatullo M,Dipalma G,et al.Oral infection by staphylococcus aureus in patients affected by white sponge nevus:a description of two cases occurred in the same family[J].Int J Med Sci,2012,9(1):47-50.
[18]Mihai MM,Tovaru SR,Giurcaneanu C,et al.Familial case of white sponge nev us-diagnosis and therapeutical challenges[J].Acta Dermatovenerol Croat,2015,23(3):228-232.
[19]Otobe IF,De Sousa SO,Matthews RW,et al.White sponge naevus:improvement with tetracycline mouth rinse:report of four cases[J].Clin Exp Dermatol,2010,32(6):749-751.
[20]Satriano RA,Errichetti E,Baroni A.White sponge nevus treated with chlorhexidine[J].J Dermatol,2012,39(8):742-743.
[21]Dufrasne L,Magremanne M,Parent D,et al.Current therapeutic approach of the white sponge nevus of the oral cavity[J].Bull Group Int Rech Sci Stomatol Odontol,2011,50(1):1-5.
[2]Songu M,Adibelli H,Diniz G.White sponge nevus:clinical suspicion and diagnosis[J].Pediatr Dermatol,2012,29(4):495-497.
[3]Shibuya Y,Zhang J,Yokoo S,et al.Constitutional mutation of keratin 13 gene in familial white sponge nevus[J].Oral Surg Oral Med Oral Pathol Oral Radiol Endod,2003,96(5):561-565.
[4]Sobhan M,Alirezaei P,Farshchian M,et al.White sponge nevus:report of a case and review of the literature[J].Acta Medica Iranica,2017,55(8):533-535.
[5]Sanjeeta N,Nandini DB,Premlata T,et al.White sponge nevus:report of three cases in a single family[J].Oral Maxillofac Pathol,2016,20(2):300-303.
[6]Westin M,Rekabdar E,Blomstrand L,et al.Mutations in the genes for keratin-4 and-13 in Swedish patients with white sponge nevus[J].J Oral Pathol Med,2018,47(2):152-157.
[7]Bakker E,Vermeer MH,Bosse T,et al.A novel keratin 13 variant in a four-generation family with white sponge nevus[J].Clin Case Rep,2017,5(9):1503-1509.
[8]Rugg EL,Leigh IM.The keratins and their disorders[J].Am J Med Genet,2004,131(1):4-11.
[9]Cai W,Jiang B,Yu F,et al.Current approaches to the diagnosis and treatment of white sponge nevus[J].Expert Rev Mol Med,2015,17:e9.
[10]Liu X,Li Q,Gao Y,et al.Mutational analysis in familial and sporadic patients with white sponge nevus[J].Br J Dermatol,2011,165(2):448-451.
[11]Zhang JM,Quan JL,Ren YY,et al.Keratin 4 regulates the development of human white sponge nevus[J].J Oral Pathol Med,2018,47(6):598-605.
[12]Kimura M,Nagao T,Machida J,et al.Mutation of keratin 4 gene causing white sponge nevus in a Japanese family[J].Int J Oral Maxillofac Surg,2013,42(5):615-61 8.
[13]Cai W,Chen Z,Jiang B,et al.Keratin 13 mutations associated with oral white sponge nevus in two Chinese families[J].Meta Gene,2014,2(2):374-383.
[14]Kurklu E,Ozturk S,Cassidy AJ,et al.Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus[J].Med Oral Patol Oral Cir Bucal,2018,23(2):e144-e150.
[15]Cai W,Jiang B,Feng T,et al.Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways[J].Orphanet J Rare Dis,2015,10:72.
[16]Aghbali A,Pouralibaba F,Eslami H,et al.White sponge nevus:a case report[J].Dent Res Dent Clin Dent Prospects,2009,3(2):70-72.
[17]Marrelli M,Tatullo M,Dipalma G,et al.Oral infection by staphylococcus aureus in patients affected by white sponge nevus:a description of two cases occurred in the same family[J].Int J Med Sci,2012,9(1):47-50.
[18]Mihai MM,Tovaru SR,Giurcaneanu C,et al.Familial case of white sponge nev us-diagnosis and therapeutical challenges[J].Acta Dermatovenerol Croat,2015,23(3):228-232.
[19]Otobe IF,De Sousa SO,Matthews RW,et al.White sponge naevus:improvement with tetracycline mouth rinse:report of four cases[J].Clin Exp Dermatol,2010,32(6):749-751.
[20]Satriano RA,Errichetti E,Baroni A.White sponge nevus treated with chlorhexidine[J].J Dermatol,2012,39(8):742-743.
[21]Dufrasne L,Magremanne M,Parent D,et al.Current therapeutic approach of the white sponge nevus of the oral cavity[J].Bull Group Int Rech Sci Stomatol Odontol,2011,50(1):1-5.