残毁性掌跖角化病1例

患者女,16岁。双掌跖角化11年余,逐渐加重,于2005年2月就诊于我科。患儿1岁左右出现听力下降,后聋哑,5岁时掌跖开始角化,9岁左右双手小指出现缩窄环。家庭中无类似疾病患者。[第一段]     

残毁性掌跖角化病1例

患者男,35岁。因双手、足出现黄褐色凹凸不平增生物,伴疼痛30年,于2011年10月12日就诊于我科。患者30年前无明显诱因双手、足出现散在条带状分布的小水疱,水疱干涸处出现黄褐色凹凸不平增生物,伴疼痛,行走不便。皮损逐渐增大、增多,曾在当地医院治疗(具体不详),无效。9年前曾在某医院行部分增生物切除术,右足跟处增生物切除后治愈,术后2个月左足背出现新发皮损。左足跟部伤口长期不愈     

残毁性掌跖角化病一例

患者20岁，女性，从2岁起掌跖皮肤出现红斑、增厚伴脱屑并逐渐加重，12岁时左手示指甲脱落并发生指背溃疡，溃疡无疼痛和压痛。目前双手拇指节末端杵样膨大。食指缩短，中指伸侧有蜂窝状凹陷，各手指关节伸侧对称性分布暗红色角化性斑疹；手掌合拢困难；足趾角化增厚边缘附黄色鳞屑，足跖部见胼胝样角化增厚斑块；皮损无瘙痒感。结合X线、实验室和组织病理检查，诊断为残毁性掌跖角化病。给予阿维A治疗，疗效较好，并对患者进行了长期随访。     

Vohwinkel残毁性掌跖角皮症

报告1例Vohwinkel残毁性掌跖角皮症.患者男,50岁.掌跖增厚脱屑40余年,双手指挛缩10年.体格检查:双掌跖角化增厚,双手除拇指外其余各指可见环形缩窄和挛缩,双足多趾离断.各指(趾)甲板正常.X线检查:双手指骨弯曲变形,部分趾骨破坏消失.诊断为残毁性掌跖角皮症.该例患者不伴有听力异常和鱼鳞病,无阳性家族史.     

残毁性掌跖角皮症1例

患者女,38岁。双掌跖皮肤弥漫增生肥厚、双手(足)小指(趾)逐渐环缩35年。查体见双掌跖皮肤弥漫增生肥厚,双足小趾脱落,双手小指第一关节处缩窄呈圆环形深沟,收缩环远端指头红肿呈球状,右手小指疼痛明显,并伴有缩窄环处糜烂、渗出、结痂。诊断为残毁性掌跖角皮症。予清热解毒、化瘀通络类中药口服,消炎止痛膏外敷治疗。1周后疼痛明显缓解,在随访中。     

残毁性掌跖角皮症1例

残毁性掌跖角皮症是一种罕见的常染色体显性遗传性疾病,笔者诊治1例,现报告如下.     

残毁性掌跖角皮症1例

患者男,33岁。掌跖皮肤进行性角化30年,双足小趾缩窄16年,左足小趾破溃疼痛10余天就诊。左足小趾皮损组织病理示:表皮呈假上皮瘤样增生,角化过度,颗粒层增厚,棘层肥厚。诊断:残毁性掌跖皮症。     

残毁性掌跖角皮症伴白癜风1例

患者女 ,16岁。掌跖部弥漫性角化过度 12年 ,双手小指环状缩窄 6年 ,伴上腹部白斑 2年 ,诊断为残毁性掌跖角皮症伴白癜风。X线片示 :双手足骨形态、密度未见异常。     

残毁型掌跖角皮病一例

患儿男,６岁。因全身皮肤干燥,足跖皲裂、糜烂,足趾自行离断伴瘙痒５年余而来诊。患儿出生后不久即发现其全身皮肤干燥、粗糙,后来双掌跖红斑角化、增厚,渐渐加重伴瘙痒,且听力差。至３岁时足跖发生皲裂,从第５趾开始甲变形、残缺及缺失;接着第４、第３、第２、第１趾甲相继发生同样病变;各趾屈侧糜烂,并发生较深的横形裂口,足背肿胀,行走困难。继而双足第５趾、左第４趾先后自行离断。病后无全身发热、吐、泻、咳嗽等。进食量较同龄儿少,二便正常。患儿系第１胎足月顺产,母乳喂养。其母妊娠期无内服药物史;但在田间喷洒过农…     

阿维A成功治疗残毁性掌跖角皮症1例

患者,男,35岁。双手、足出现黄褐色凹凸不平增生物,伴疼痛30年,组织病理示特征性角化过度和颗粒层增厚,阿维A治疗12个月,症状明显好转。     

表皮松解性掌跖角化病1例

报告1例表皮松解性掌跖角化病。患者女,26岁。双侧掌跖角化20余年。皮肤科检查见双侧掌跖对称性角化性斑块。皮损组织病理检查示表皮角化过度,颗粒层增厚,棘层及颗粒层中有较多裂隙,裂隙处细胞界限不清,由淡染物质或透明角质颗粒组成。组织病理改变符合表皮松解性掌跖角化病诊断。采用阿维A治疗后皮损明显改善。     

Mal de Meleda-like palmoplantar keratoderma

A 38-year-old Japanese man was seen for severe palmoplantar keratoderma, extending to the dorsal aspects with red rims. He had had spontaneous amputations of the toes and surgical amputation of the right lower leg because of squamous cell carcinoma of the right sole. The clinical symptoms suggested those of mal de Meleda, except for the absence of consanguinity and of granular layers in the epidermis. The keratoderma improved with oral etretinate treatment.     

残毁性掌跖角皮症伴鱼鳞病一例

患者,女,61岁。掌跖进行性角化伴关节挛缩、疼痛60年。双手掌、足跖弥漫性角化斑块,双手指挛缩畸形,指间关节可见纤维缩窄环,关节活动障碍,四肢伸侧可及褐色多角形鳞屑。诊断为残毁性掌跖角皮症伴鱼鳞病。该例患者不伴有听力异常和智能障碍。其父母为近亲结婚,其姐有相似症状。     

An unusual case of palmoplantar keratoderma

A 55-year-old woman with palmoplantar keratoderma presented an associated hyperhidrosis with distinct odour and maceration. She had had the lesions for about 20 years and this seemed to be an isolated case in her family. This case appeared very unusual because there were no signs of acanthokeratolysis in the biopsies. Two months of treatment with acitretin (Neotigason; 25 mg daily), produced a spectacular result: clearance of all the lesions on both hands and a strong diminution of the lesions on the soles. The Unna-Thost variant of palmoplantar keratoderma usually appears in the first few months of life, and it rarely appears in the third decade. The condition is inherited as an autosomal dominant with high penetrance and expressivity. Our subject appeared to be an exception to these two facts.     

中国掌跖角皮症患者问卷调查分析

目的：调查中国掌跖角皮症患者的临床特征、伴发疾病以及患者对自身疾病的认知水平。方法：通过网络调查问卷的形式,对全国各地掌跖角皮症患者进行问卷调查。结果：共发放和回收调查问卷361份,有效问卷346份。在346例掌跖角皮症患者中,154例（44.51%）患者有家族史,150例(43.35%)患者皮损类型为弥漫性;287例(82.95%)患者皮损的自觉症状为干燥;258例（74.57%）患者病情严重程度受季节影响;157例（45.38%）患者伴发多汗症;293例(84.68%)患者表现出不同程度的心理负担;300例(86.71%)患者倾向于选择外用药物进行治疗。结论：本研究中掌跖角皮病患者的皮损类型以泛发性为主,自觉症状主要为干燥,病情易受季节影响,患者常有心理负担,更愿意选择外用药治疗。     

有家族史的Vohwinkel残毁性掌跖角皮症一例并文献复习

报告1例女性16岁Vohwinkel残毁性掌跖角皮症患者。掌跖部渐进性角化过度病史16年,双手足第五指、趾戒指状紧缩环2年。X线片示局部骨质异常。无鱼鳞病,听力正常,其父有类似疾病史。     

Keratin-9 gene mutation in a family with epidermolytic palmoplantar keratoderma

BACKGROUND: Epidermolytic palmoplantar keratoderma is an autosomal dominant inherited disorder of keratinization. METHODS: We studied five members of a Jewish family with epidermolytic palmoplantar keratoderma. Genomic DNA was extracted from leucocytes, and exon 1 of the keratin 9 gene was amplified using polymerase chain reaction techniques. RESULTS: The mutation was found in exon 1 of the keratin 9 gene in codon 160. CONCLUSIONS: Like most of the other families with clinical features of epidermolytic palmoplantar keratoderma the mutation is found in exon 1 of the keratin 9 gene.