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。     

KRT9基因突变所致表皮松解性掌跖角化病1例

报告KRT9基因突变所致表皮松解性掌跖角化病1例.患者男,中国籍,32岁,手足角化性斑块30余年.皮肤科检查:双侧掌跖面可见对称性弥漫性角化斑块,皮肤粗糙增厚,呈灰黄色.皮损组织病理:表皮明显角化过度,颗粒层棘层增厚,皮突延长,颗粒细胞变性,考虑掌跖角化病.基因全外显子组测序结果:KRT9基因外显子检测出c.487C＞...     

表皮松解性掌跖角化病研究进展

表皮松解性掌跖角化病是一种常染色体显性遗传性单基因病,以掌跖部对称性弥漫性角化过度为主要特征,其组织学特点为表皮松解性角化过度.目前已从分子水平上阐明表皮松解性掌跖角化病由角蛋白9及角蛋白1的基因突变引起.此外,环境及药物卡培他滨也可能为其致病因素.表皮松解性掌跖角化病主要以对症治疗为主,小干扰RNA的研究逐步成为热点,为表皮松解性掌跖角化病的基因治疗提供一定的理论基础.随着对此病分子基础的研究,产前诊断的技术正不断发展.     

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。     

角化性皮肤病

毛囊角化病样发疹性汗管瘤1例，扁平苔藓样角化病2例，持久性豆状角化过度症1例，乳头乳晕角化过度症伴黑棘皮病1例，残毁性掌跖角皮症伴鱼鳞病1例，     

Progressive palmoplantar keratoderma:a pedigree study

报告1例进行性掌跖角化病及其家系调查结果.先证者男,17岁.掌跖角化性斑块15年.皮肤科检查见双掌、跖部弥漫性角化性斑块,逾越至手背、足背,形成条状角化性斑块,并特征性累及足跟.皮损组织病理检查示表皮棘层及颗粒层肥厚伴显著正角化过度.诊断:进行性掌跖角化病.该家系4代中有4例该病患者(男3例,女1例),属常染色体显性遗传.     

角化性皮肤病

983357 残毁性掌跖角皮症伴鱼鳞病一例/王建琴（广州市一院皮肤科）…//中华皮肤科杂志.-1998,21（2）.-74 女,32岁。病期7年。检查见全身皮肤干燥、脱屑,四肢伸侧有淡褐色多角形鱼鳞状鳞屑紧贴,边缘呈游离状。面部稍潮红,以双上眼睑为著,眉间、鼻翼两侧有油腻性鳞屑,手足背皮肤增厚,有条状角质增生,掌跖部弥漫性角化过度,表面布满蜂窝状小凹,右小趾从趾部残缺,左小趾有一线状缩窄,表面糜烂,有少量脓液。双足第3、4趾亦出现缩窄变细,趾端膨大呈球形。双手小指远端指间关节处有环形缩窄,所有手指近侧指间     

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。     

角化性皮肤病

残毁性掌跖角化病，左颞部皮角1例，毛囊角化病1例，     

一例表皮松解性掌跖角化病家系的角蛋白9基因突变检测研究

表皮松解性掌跖角化病(epidermolytic palmoplantar keratoderma)是一种常染色体显性遗传性皮肤病,其临床特征为掌跖表皮弥漫性过度角化,病变部位周边有明显的红斑边缘.     

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。     

Olmsted syndrome: report of two cases

Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female patients of Olmsted syndrome, who presented with perioral hyperkeratosis and palmoplantar keratoderma. One of our patients also had woolly hair from birth and flexion contracture of a digit, while the other had pseudoainhum. There was no cardiac involvement. Hence, the diagnosis of Olmsted syndrome was made.     

Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation

Olmsted syndrome is an uncommon disorder of keratinization that presents mutilating palmoplantar keratoderma, periorificial hyperkeratosis, leukokeratosis and alopecia. We report a new case of this rare syndrome diagnosed in 48-year-old woman who developed several squamous cell carcinomas of limbs and adenocarcinoma of the lung. She has been followed up for about 40 years and osteolytic changes of the fingers and toes accompanied the keratinizing disorder and squamous cell carcinoma. Loricrin gene mutation that is occasionally observed in loricrin keratoderma such as Vohwinkel's syndrome was not detected in the present case.     

Olmsted syndrome

Olmsted syndrome is an uncommon inherited disorder of keratinization that presents mutilating palmoplantar keratoderma, perioral hyperkeratosis, leukokeratosis and alopecia. We report a case of this rare syndrome diagnosed in a 48-year-old woman and confirms the existence of a generalized abnormality in keratin expression. Immunoreactivity in our case suggests an abnormal expression of keratins 5 and 14 similar to the observed in other hyperproliferative disorders.     

Olmsted综合征与1例文献复习

报告1例Olmsted综合征。男,21岁,因双侧进行性掌跖角化和腔口周围角化性斑片就诊。患者自小曾在当地医院以湿疹、皮炎等治疗,并使用各种药膏(名不详),无明显疗效,病情进行性加重,表现为边缘锐利的残毁性掌跖角化、指(趾)压缩,全身泛发毛囊性角化性灰白色丘疹,甲床充满白色、坚硬的角化性碎片,同时还有乳头乳晕角化过度和普秃。     

Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity?

Background Olmsted syndrome is a rare keratinization disorder characterized by mutilating palmoplantar and periorificial keratoderma as the two major diagnostic features. Some authors believe that atypical cases without this standard combination may not really belong to Olmsted syndrome. Herein, we describe two familial cases with congenital nonmutilating palmoplantar and periorificial keratoderma, and discuss their similarities and differences with Olmsted syndrome. Patients The study included two sisters who presented with focal and punctate nonmutilating palmoplantar keratoderma (PPK), periorificial hyperkeratotic plaques, and widely distributed keratotic lesions. Fragile denuded areas of the skin were found in sites exposed to trauma. Fingernails showed a characteristic form of leukonychia. Results Histopathology of plantar keratoderma showed psoriasiform hyperplasia with marked compact hyperkeratosis, while vicinity of denuded skin revealed thin parakeratotic zone and dissolution of the granular cell layer. Immunohistochemistry demonstrated suprabasal staining pattern for acidic keratin (AE1) and uniform positivity, starting four to six layers above the basal layer, for cytokeratin 10. Electron microscopy showed defective keratinization. Cytogenetic studies revealed normal karyotype and no chromosomal breakage. Conclusion Our cases share Olmsted syndrome in the early onset, and the presence of symmetrical PPK, periorificial keratoderma and keratotic lesions. However, the striking nonmutilating nature of PPK and the presence of unique features in our patients suggest a newly described keratinization disorder.     

A new variant of Vohwinkel syndrome: a case report

Vohwinkel syndrome (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and deafness. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Here we report a mutilating and focal palmoplantar keratoderma in two siblings with congenital hypotrichosis and probably autosomal recessive inheritance that appears to be a new variant of Vohwinkel syndrome.     

Clinically specific type of focal palmoplantar keratoderma with sensorineural deafness: an entity

A case of focal palmoplantar keratoderma with associated sensorineural deafness is reported. The palmoplantar keratoderma was sharply marginated by geometric borders, spared the plantar arch and was accompanied by marked hyperkeratosis of palmar flexural creases. This syndrome, consisting of a very particular type of palmoplantar keratoderma associated with sensorineural deafness, appears to be distinctive enough to be considered as a clinical entity.     

Olmsted syndrome with hypotrichosis

Olmsted syndrome is characterised by mutilating palmoplantar keratoderma with peri-orificial hyperkeratosis. We report the case of an 8-year old boy who presented with severe keratoderma of the soles since birth and of the palms from the age of 3 years. At 3 years of age hyperkeratotic plaques appeared on the elbows and knees. The child developed keratotic lesions at the angle of the mouth 1 year later. The child had sparse thin easily pluckable hair. Light and scanning electron microscopic examination of the hair revealed several hair shaft abnormalities. Though the psychomotor development of the child was normal till 1 year of age, thereafter the keratoderma had largely restricted the child's mobility. There was no history of hyperhidrosis and no dental abnormality was detected. The lesions had been unresponsive to keratolytics and had recurred after surgical removal. The patient was started on oral retinoids and topical keratolytics and had partially responded in 2 months.