对称性肢端角化病临床研究-附9例报道
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摘要
目的:报道一组以肢端出现对称性、棕褐色、角化过度性斑片病例,探讨发病原因和治疗方法。方法:系统收集自2012年10月至2016年6月期间诊疗的以对称性肢端角化性皮损为表现的9例患者的临床资料,包括年龄、性别、职业、家族成员情况、临床表现、皮损组织病理学改变、治疗、治疗转归等。结果:9例患者中男8例,女1例,平均年龄27.4岁(13~43岁),病程2个月至15年,平均(4.5±4.3)年。有1例男性患者有一同胞姐姐有类似病史。临床主要表现为红褐色角化性斑片,每年7、8月开始发病,10月左右开始缓解并渐完全消退。部分手部有轻度瘙痒不适。皮肤组织病理学检查表现为明显的网篮状角化过度,轻度乳头瘤样增生,真皮浅层血管周围稀疏淋巴细胞浸润。1例用异维A酸治疗短期有效。结论:对称性肢端角化病主要以肢端出现对称性角化斑为主,常伴随寻常型鱼鳞病;遗传因素和环境因素在发病中的作用有待阐述;异维A酸可作为一种治疗选择。
Objective: To report nine patients who presented symmetric keratosis on the acral extremities and to investigate the clinic opathologic features, denomination, aetiological agent and therapeutic method. Methods: Nine patients characterized by symmetrical acrokeratoderma were collected from outpatients from October 2012 to June 2016 in the Department of Dermatology.General information on the age, sex, profession, family history of patients were documented. All patients underwent clinical and histopathological examinations and were followed up for the assessment of treatment efficiency. Results: Among these patients, 8 were males and 1 were females, ranging in age from 13 to 43 years, with duration of disease varying from 2 months to 5 years(mean course1.5±1.2 years). A man and his sister had the similar disease history. All 9 patients had brownish-black plaques distributed symmetrically over dorsum of hand and feet with variable involvement of wrist, flexural surface of ankles, elbow, shin and knee joint. Typically whitish maceration of the lesions was seen after immersing in water. The disease showed exacerbation in July with spontaneous resolution in October. Histopathological examination showed basket weave hyperkeratosis, papilloma hyperplasia,irregular acanthosis and papillary dermal perivascular infiltrate of lymphohistiocytes. Isotretinoin appeared to provide symptomatic improvement in the short term for one case. Conclusions: Symmetric acral keratoderma may represent a new entity clinically characterized by symmetrical acrokeratoderma.This disorder is frequently associated with ichthyosis vulgaris. The genetic and environmental factors involved in disease causation needs to be elucidated in future. Isotretinoin is a choose for therapy.
Objective: To report nine patients who presented symmetric keratosis on the acral extremities and to investigate the clinic opathologic features, denomination, aetiological agent and therapeutic method. Methods: Nine patients characterized by symmetrical acrokeratoderma were collected from outpatients from October 2012 to June 2016 in the Department of Dermatology.General information on the age, sex, profession, family history of patients were documented. All patients underwent clinical and histopathological examinations and were followed up for the assessment of treatment efficiency. Results: Among these patients, 8 were males and 1 were females, ranging in age from 13 to 43 years, with duration of disease varying from 2 months to 5 years(mean course1.5±1.2 years). A man and his sister had the similar disease history. All 9 patients had brownish-black plaques distributed symmetrically over dorsum of hand and feet with variable involvement of wrist, flexural surface of ankles, elbow, shin and knee joint. Typically whitish maceration of the lesions was seen after immersing in water. The disease showed exacerbation in July with spontaneous resolution in October. Histopathological examination showed basket weave hyperkeratosis, papilloma hyperplasia,irregular acanthosis and papillary dermal perivascular infiltrate of lymphohistiocytes. Isotretinoin appeared to provide symptomatic improvement in the short term for one case. Conclusions: Symmetric acral keratoderma may represent a new entity clinically characterized by symmetrical acrokeratoderma.This disorder is frequently associated with ichthyosis vulgaris. The genetic and environmental factors involved in disease causation needs to be elucidated in future. Isotretinoin is a choose for therapy.
引文
[1]姜祎群,曾学思,薛燕宁,等.对称性肢端角化病——一种新命名的皮肤病[J].临床皮肤科杂志,2008,37(7):428-430Jiang Yi-qun,Zeng Xue-si,Xue Yan-ning,et al.Symmetric acral keratoderma:a newly described skin disease[J].Journal of Clinical Dermatolgy,2008,37(7):428-430
[2]Hülya Nazik,Sel?uk Nazik,Feride Gül?oban,et al.Sporadic and familial cases of aquagenic keratoderma[J].J Dermatol Case Rep,2016,10(1):10-13
[3]Georgi Tchernev,Kristina Semkova,JoséCarlos Cardoso,et al.Aquagenic keratoderma:Two new case reports and a new hypothesis[J].Indian Dermatol Online J,2014,5(1):30-33
[4]Gisela Torres,Ramona Behshad,Amy Han,et al."I FORGOT TO SHAVE MY HANDS":A CASE OF SPINY KERATODERMA[J].J Am Acad Dermatol,2008,58(2):344-348
[5]Marie-Claude Houle,Rola Al Dhaybi,Antranik Benohanian.Unilateral aquagenic keratoderma treated with botulinum toxin A[J].J Dermatol Case Rep,2010,4(1):1-5
[6]Christopher M.Allan,Shiri Procaccia,et al.Palmoplantar keratoderma in Slurp2-deficient mice[J].J Invest Dermatol,2016,136(2):436-443
[7]Juliane C.Lessard,Pierre A,et al.Keratin 16 null mice develop palmoplantar keratoderma,a hallmark feature of pachyonychia congenita and related disorders[J].J Invest Dermatol,2012,132(5):1384-1391
[8]Jae Yeol Lee,Sung-Il In,Hyon J Kim,et al.Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26[J].J Korean Med Sci,2010,25(10):1539-1542
[9]M.L.Lovgren,M.A.Mc Aleer,A.D.Irvine,et al.Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes:implications for genetic screening[J].Br J Dermatol,2017,176(5):1345-1350
[10]Fan YM,Li SF,Yang YP,et al.Is acquired symmetrical acrokeratoderma a new dermatosis Two case reports and Chinese literature review[J].Int J Dermatol,2010,49(6):647-652
[11]Liu Z,Zhou Y,Chen RY,et al.Symmetrical acrokeratoderma:A peculiar entity in China Clinicopathologic and immunopathologic study of 34 new cases[J].J Am Acad Dermatol,2014,70(3):533-538
[12]朱晓浚,李希清,杨容青,等.表现为色素性对称性肢端角化性皮损的一组患者临床分析[J].中华皮肤科杂志,2008,41(8):539-541Zhu Xiao-jun,Li Xi-qing,Yang Rong-qing,et al.Clinical analysis on a group of cases characterized by pigmented symmetrical acrokeratoderma[J].Chinese Journal of Dermatology,2008,41(8):539-541
[13]田歆,周欣,张三泉,等.季节性对称性肢端角化症29例临床分析[J].中国麻风皮肤病杂志,2009,25(9):668-669Tian Xin,Zhou Xin,Zhang San-quan,et al.Clinical analysis on 29cases with seasonal symmetrical acrokeratoderma[J].China journal of Leprosy and Skin Diseases,2009,25(9):668-669
[14]Vinay K,Sawatkar GU,Saikia UN,et al.Symmetrical acrokeratoderma:a case series in Indian patients[J].Orphanet J Rare Dis,2016,11(1):156
[15]刘超,唐智慧,曾海燕,等.季节性获得性对称性色素性苔藓样肢端角化病31例临床分析[J].昆明医科大学学报,2013,(6):127-130Liu Chao,Tang Zhi-hui,Zeng Hai-yan,et al.Clinical Analysis of 31Patients with Seasonal Acquired Symmetric Pigmentary and Lichenoid Acrokeratoderma[J].Journal of Kunming Medical University,2013,(6):127-130
[16]李常兴,韩春雷.对称性肢端角化病62例临床分析[J].中华皮肤科杂志,2013,46(7):505-506Li Chang-xing,Han Chun-lei.Clinical analysis on 62 cases with symmetrical acrokeratoderma[J].Chinese Journal of Dermatology,2013,46(7):505-506
[17]李常兴,韩春雷.对称性肢端角化病临床病理分析[J].中华病理学杂志,2013,42(8):549-550Li Chang-xing,Han Chun-lei.Clinical and pathological analysis of symmetric acral keratosis[J].Chinese Journal of Pathology,2013,42(8):549-550
[18]李常兴,李红杏,官飞凤,等.对称性肢端角化病患者皮肤屏障功能及其意义[J].广东医学,2015,36(21):3340-3341Li Chang-xing,Li Hong-xing,Guan Fei-feng,et al.Skin barrier function in patients with symmetrical acral keratosis and its significance[J].Guangdong Medical Journal,2015,36(21):3340-3341
[19]袁柳风,李光,齐淑贞,等.对称性肢端角化病合并血管炎1例[J].中华皮肤科杂志,2009,42(10):727Yuan Liu-feng,Li Guang,Qi Shu-zhen,et al.Symmetrical acral keratosis complicated with vasculitis:a report of 1 cases[J].Chinese Journal of Dermatology,2009,42(10):727
[20]杨珮珮,彭晶,于作忠,等.对称性肢端角化病皮损中脂肪酸结合蛋白5及二氢硫辛酰胺脱氢酶表达[J].中华皮肤科杂志,2015,48(12):844-848Yang Pei-pei,Peng Jing,Yu Zuo-zhong,et al.Expressions of fatty acid binding-protein 5 and dihydrolipoamide dehydrogenase in skin lesions of symmetrical acrokeratoderma[J].Chinese Journal of Dermatology,2015,48(12):844-848
[21]Chen P,Sun S,Zeng K,et al.Exome sequencing identifies a TCF4mutation in a Chinese pedigree with symmetrical acralkeratoderma[J].Journal of the European Academy of Dermatology&Venereology Jeadv,2017,9(18)[Epub ahead of print]
[22]于作忠,程云龙,盛萍.对称性肢端角化病皮损中PrxI和CLASP1的表达[J].中国麻风皮肤病杂志,2016(3):139-142Yu Zuo-zhong,Chen Yun-long,Sheng Ping.Expression of peroxiredoxin I and cytoplasmic linker associated protein 1 in lesions of symmetrical ac-rokeratoderma[J].China Journal of Leprosy and Skin Diseases,2016(3):139-142
[23]李荣华,官飞凤,李笑梅.内皮蛋白及兜甲蛋白在对称性肢端角化病中的表达及意义[J].实用医学杂志,2016,32(21):3573-3576Li Rong-hua,Guan Fei-feng,Li Xiao-mei.Expression and significance of endothelial protein pocket protein in symmetric acral keratosis[J].The Journal of Practical Medicine,2016,32(21):3573-3576
[24]Li CX,Wen J,Zeng K,et al.Ultrastructural study of symmetrical acral keratoderma[J].Ultrastruct Pathol,2014,38(6):420-424
[25]吴铁强,顾有守.皮肤垢着病样马拉色菌感染16例分析[J].中华皮肤科杂志,2008,38(8):526-527Wu Tie-qiang,Gu You-shou.Analysis of 16 cases of Malassezia infection like cutaneous dirtadherent disease[J].Chinese Journal of Dermatology,2008,38(8):526-527
[2]Hülya Nazik,Sel?uk Nazik,Feride Gül?oban,et al.Sporadic and familial cases of aquagenic keratoderma[J].J Dermatol Case Rep,2016,10(1):10-13
[3]Georgi Tchernev,Kristina Semkova,JoséCarlos Cardoso,et al.Aquagenic keratoderma:Two new case reports and a new hypothesis[J].Indian Dermatol Online J,2014,5(1):30-33
[4]Gisela Torres,Ramona Behshad,Amy Han,et al."I FORGOT TO SHAVE MY HANDS":A CASE OF SPINY KERATODERMA[J].J Am Acad Dermatol,2008,58(2):344-348
[5]Marie-Claude Houle,Rola Al Dhaybi,Antranik Benohanian.Unilateral aquagenic keratoderma treated with botulinum toxin A[J].J Dermatol Case Rep,2010,4(1):1-5
[6]Christopher M.Allan,Shiri Procaccia,et al.Palmoplantar keratoderma in Slurp2-deficient mice[J].J Invest Dermatol,2016,136(2):436-443
[7]Juliane C.Lessard,Pierre A,et al.Keratin 16 null mice develop palmoplantar keratoderma,a hallmark feature of pachyonychia congenita and related disorders[J].J Invest Dermatol,2012,132(5):1384-1391
[8]Jae Yeol Lee,Sung-Il In,Hyon J Kim,et al.Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26[J].J Korean Med Sci,2010,25(10):1539-1542
[9]M.L.Lovgren,M.A.Mc Aleer,A.D.Irvine,et al.Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes:implications for genetic screening[J].Br J Dermatol,2017,176(5):1345-1350
[10]Fan YM,Li SF,Yang YP,et al.Is acquired symmetrical acrokeratoderma a new dermatosis Two case reports and Chinese literature review[J].Int J Dermatol,2010,49(6):647-652
[11]Liu Z,Zhou Y,Chen RY,et al.Symmetrical acrokeratoderma:A peculiar entity in China Clinicopathologic and immunopathologic study of 34 new cases[J].J Am Acad Dermatol,2014,70(3):533-538
[12]朱晓浚,李希清,杨容青,等.表现为色素性对称性肢端角化性皮损的一组患者临床分析[J].中华皮肤科杂志,2008,41(8):539-541Zhu Xiao-jun,Li Xi-qing,Yang Rong-qing,et al.Clinical analysis on a group of cases characterized by pigmented symmetrical acrokeratoderma[J].Chinese Journal of Dermatology,2008,41(8):539-541
[13]田歆,周欣,张三泉,等.季节性对称性肢端角化症29例临床分析[J].中国麻风皮肤病杂志,2009,25(9):668-669Tian Xin,Zhou Xin,Zhang San-quan,et al.Clinical analysis on 29cases with seasonal symmetrical acrokeratoderma[J].China journal of Leprosy and Skin Diseases,2009,25(9):668-669
[14]Vinay K,Sawatkar GU,Saikia UN,et al.Symmetrical acrokeratoderma:a case series in Indian patients[J].Orphanet J Rare Dis,2016,11(1):156
[15]刘超,唐智慧,曾海燕,等.季节性获得性对称性色素性苔藓样肢端角化病31例临床分析[J].昆明医科大学学报,2013,(6):127-130Liu Chao,Tang Zhi-hui,Zeng Hai-yan,et al.Clinical Analysis of 31Patients with Seasonal Acquired Symmetric Pigmentary and Lichenoid Acrokeratoderma[J].Journal of Kunming Medical University,2013,(6):127-130
[16]李常兴,韩春雷.对称性肢端角化病62例临床分析[J].中华皮肤科杂志,2013,46(7):505-506Li Chang-xing,Han Chun-lei.Clinical analysis on 62 cases with symmetrical acrokeratoderma[J].Chinese Journal of Dermatology,2013,46(7):505-506
[17]李常兴,韩春雷.对称性肢端角化病临床病理分析[J].中华病理学杂志,2013,42(8):549-550Li Chang-xing,Han Chun-lei.Clinical and pathological analysis of symmetric acral keratosis[J].Chinese Journal of Pathology,2013,42(8):549-550
[18]李常兴,李红杏,官飞凤,等.对称性肢端角化病患者皮肤屏障功能及其意义[J].广东医学,2015,36(21):3340-3341Li Chang-xing,Li Hong-xing,Guan Fei-feng,et al.Skin barrier function in patients with symmetrical acral keratosis and its significance[J].Guangdong Medical Journal,2015,36(21):3340-3341
[19]袁柳风,李光,齐淑贞,等.对称性肢端角化病合并血管炎1例[J].中华皮肤科杂志,2009,42(10):727Yuan Liu-feng,Li Guang,Qi Shu-zhen,et al.Symmetrical acral keratosis complicated with vasculitis:a report of 1 cases[J].Chinese Journal of Dermatology,2009,42(10):727
[20]杨珮珮,彭晶,于作忠,等.对称性肢端角化病皮损中脂肪酸结合蛋白5及二氢硫辛酰胺脱氢酶表达[J].中华皮肤科杂志,2015,48(12):844-848Yang Pei-pei,Peng Jing,Yu Zuo-zhong,et al.Expressions of fatty acid binding-protein 5 and dihydrolipoamide dehydrogenase in skin lesions of symmetrical acrokeratoderma[J].Chinese Journal of Dermatology,2015,48(12):844-848
[21]Chen P,Sun S,Zeng K,et al.Exome sequencing identifies a TCF4mutation in a Chinese pedigree with symmetrical acralkeratoderma[J].Journal of the European Academy of Dermatology&Venereology Jeadv,2017,9(18)[Epub ahead of print]
[22]于作忠,程云龙,盛萍.对称性肢端角化病皮损中PrxI和CLASP1的表达[J].中国麻风皮肤病杂志,2016(3):139-142Yu Zuo-zhong,Chen Yun-long,Sheng Ping.Expression of peroxiredoxin I and cytoplasmic linker associated protein 1 in lesions of symmetrical ac-rokeratoderma[J].China Journal of Leprosy and Skin Diseases,2016(3):139-142
[23]李荣华,官飞凤,李笑梅.内皮蛋白及兜甲蛋白在对称性肢端角化病中的表达及意义[J].实用医学杂志,2016,32(21):3573-3576Li Rong-hua,Guan Fei-feng,Li Xiao-mei.Expression and significance of endothelial protein pocket protein in symmetric acral keratosis[J].The Journal of Practical Medicine,2016,32(21):3573-3576
[24]Li CX,Wen J,Zeng K,et al.Ultrastructural study of symmetrical acral keratoderma[J].Ultrastruct Pathol,2014,38(6):420-424
[25]吴铁强,顾有守.皮肤垢着病样马拉色菌感染16例分析[J].中华皮肤科杂志,2008,38(8):526-527Wu Tie-qiang,Gu You-shou.Analysis of 16 cases of Malassezia infection like cutaneous dirtadherent disease[J].Chinese Journal of Dermatology,2008,38(8):526-527