先天性鱼鳞病的少见临床类型

目的 总结先天性鱼鳞病少见临床类型的特征和治疗方法.方法 分析2005年5月～2006年8月我院收治的少见类型的先天性鱼鳞病患儿4例.结果 4例均否认有家族性遗传性疾病史.2例非大疱性先天性鱼鳞病样红皮病,表现为红皮病和弥漫性白色至淡棕色鳞屑,均发生睑外翻和听力异常,其中1例掌跖角化过度.2例表皮松解性角化过度鱼鳞病于出生后不久起水疱,以后增厚灰棕色的、疣状鳞屑泛发于躯干和四肢,包括皱襞部.2例均发生红皮病,掌跖未累及,指趾甲和毛发正常.本组4例患儿经治疗后改善,其中3例应用阿维A联合外用药物治疗.结论 2例表皮松解性角化过度鱼鳞病可能由自发突变引起.小剂量阿维A联合外用药物治疗先天性鱼鳞病安全但短期有效.     

残毁性掌跖角化病一例

目的:内服联合外用药物治疗残毁性掌跖角化病疗效观察。方法:选取就诊于我院一例已确诊的残毁性掌跖角化病患儿,给予口服阿维A胶囊10mg口服,每日一次,联合院内自制中药制剂泡洗患处,硫磺霜、地奈德乳膏、止痒润肤乳膏联合局部外用及中药封包治疗。结果:较入院时,患儿皮损处增生的角化性疣状斑块显著好转,渗液及臭味消失,皮肤基本恢复正常色泽。结论:内服联合外用药物治疗残毁性掌跖角化病疗效显著,值得临床推广应用。     

阿维A胶囊联合复方氟米松软膏治疗掌跖角化性湿疹的临床研究

目的观察阿维A胶囊联合复方氟米松软膏治疗掌跖角化性湿疹的临床疗效和安全性。方法将门诊65例掌跖角化性湿疹患者按就诊先后顺序分为2组,治疗组35例口服阿维A胶囊联合外用复方氟米松软膏,对照组30例口服阿维A胶囊联合外用卤米松乳膏,于治疗4周后进行症状评分和疗效观察。结果治疗组疗效优于对照组,差异有统计学意义（P〈0．05）。治疗组有5例,对照组有4例出现轻微不良反应,在停药或减少外用药次数后消失。结论口服阿维A胶囊联合外用复方氟米松软膏治疗掌跖角化性湿疹有很好的疗效和安全性。     

口服阿维A胶囊治疗掌跖角化性湿疹疗效观察

目的观察口服阿维A胶囊治疗掌跖角化性湿疹的临床疗效以及安全性。方法将75例掌跖角化性湿疹患者随机分为两组。治疗组口服阿维A胶囊、氯雷他定片及外用卤米松软膏。对照组口服氯雷他定片及外用卤米松软膏。治疗4周后观察两组疗效。结果治疗组疗效优于对照组,差异有统计学意义(P<0.05)。治疗组有6例出现轻微不良反应,减小用药剂量或停药后很快消失。结论口服阿维A胶囊治疗掌跖角化性湿疹疗效好,安全可靠。     

对手足皲裂40例的诱因探查

手足皲裂是一种广大劳动人民在冬季常见的皮肤病。它不是一个独立的疾病,而是发生在一些伴有角化过度的慢性皮肤病过程中的一种继发性表现。例如皲裂性湿疹、先天性掌跖角化病、进行性对称性红斑角化病、掌跖银屑病、鱼鳞癣、以及鳞屑一角化型手足癣等;而以手足癣引起的皲裂最多见。     

表现为变异性红斑角化病样鱼鳞病的Chanarin-Dorfman综合征

中性脂质贮积病(Chanarin-Dorfm an综合征)是一种常染色体隐性遗传的伴有先天性鱼鳞病和多系统不同细胞内中性脂质(脂肪滴)沉积的代谢性疾病,其临床表现被认为符合非大疱性先天性鱼鳞病样红皮病。作者报道1例4岁男患儿,呈泛发性鱼鳞病样表现,移行性鳞屑斑块和正常皮肤交替出现,     

表皮松解性掌跖角化病研究进展

表皮松解性掌跖角化病(EPPK)是一种常染色体显性遗传性皮肤病,随着国内外家系报道的不断增多,对该病有了新的认识。药物卡培他滨可能是其致病因素,临床中部分EPPK患者并发指节垫,现总结了近几年所发现的导致表皮松解性掌跖角化症的7种不同的角蛋白1、9基因突变类型,此外异维A酸在本病中的治疗作用尚需进一步确认。现就EPPK的致病因素、分子遗传学研究、临床表现及治疗予以综述。     

先天性鱼鳞病火棉胶样婴儿1例的护理

先天性鱼鳞病是一组常染色体遗传性皮肤脱屑性疾病，临床表现为皮肤发硬和脱屑，组织学上表现为表皮增生和角化过度，在新生儿期有下列几种类型：①火棉胶样婴儿；②寻常型鱼鳞病；③层状鱼鳞病；④性联性鱼鳞病；⑤先天性疱疹性鱼鳞样红皮症。我科于2006年4月收治了1例先天性鱼鳞病火棉胶样婴儿的患儿，现将护理体会报告如下。     

大剂量阿片中毒1例的抢救及护理

先天性鱼鳞病是一组常染色体遗传性皮肤脱屑性疾病,遗传为隐性或显性,临床表现为皮肤发硬和脱屑。组织学上表现为表皮增生,角化过度,有的类型出现颗粒皮层。现报道1例新生儿先天性鱼鳞病患儿的护理体会。     

表皮松解性角化过度鱼鳞病伴体股癣2例报告

表皮松解性角化过度鱼鳞病伴体股癣２例报告余桂琳安徽省滁州市第二人民医院皮肤科２３９００１表皮松解性角化过度鱼鳞病伴体股癣感染临床罕见，现将遇到的２例报道如下。例１先证者，女，３３岁，１９９４年８月就诊。患者自出生后，躯干、四肢反复起红斑、水疽、数天后...     

复方甘草酸苷联合阿维A治疗红皮病型银屑病的疗效观察

目的观察阿维A胶囊与复方甘草酸苷胶囊联合治疗红皮病型银屑病的临床疗效。方法62例患者随机均分为两组,治疗组采用复方甘草酸苷联合阿维A治疗;对照组仅单用阿维A治疗。治疗8周后观察疗效。结果治疗组有效率（93．55％）明显高于对照组（80．65％）,差异有统计学意SL（P〈0．05）。结论阿维A胶囊联合复方甘草酸苷胶囊治疗红皮病型银屑病安全、有效,并可减少药物副作用。     

角膜炎·鱼鳞病·耳聋综合征--国内首例报告

目的报告1例角膜炎·鱼鳞病·耳聋综合征(Keratitis ichthyosis anddeafness syndrome,KID syndrome).方法对我院2003年4月发现并确诊治疗的1例患者的临床资料进行分析.结果患者为16岁女孩,出生不久皮肤即出现鱼鳞样结痂,头皮明显角化过度,头项部、鼻尖、双耳、面颊、双下肢自膝部以下呈过度角化的蛎壳样损害.听觉丧失,喉部可以发声,不会讲话.视力较差,秃睫,畏光.躯干部皮肤明显干燥,皮肤角化过度,呈皮革样变化.病理活检为鱼鳞病,耳科检查为先天感音神经性耳聋,眼科检查为角膜血管翳.结论根据患者临床表现、皮损特征及各项检查结果,诊断为KID综合征,并给予阿维A治疗,皮肤科症状明显改善.     

Updated molecular genetics and pathogenesis of ichthiyoses

Research into the molecular genetics and pathomechanisms of ichthyoses have advanced considerably, resulting in the identification of several causative genes and molecules underlying the disease. In 2009, the First Ichthyosis Consensus Conference was held to establish a consensus for the nomenclature and classification of inherited ichthyoses, by which an international consensus for the classification of inherited ichthyosis was achieved. In this review, the pathogeneses of various ichthyoses are summarized based on their revised classification and terminology. Skin barrier defects are involved in the pathogenesis of various types of ichthyosis. The known causative molecules underlying ichthyosis include ABCA12, lipoxygenase-3, 12R-lipoxygenase, CYP4F22, ichthyin and steroid sulfatase, all of which are thought to be related to the intercellular lipid layers. ABCA12 is a known keratinocyte lipid transporter associated with lipid transport in lamellar granules and a loss of ABCA12 function leads to defective lipid transport in the keratinocytes, resulting in the most severe, harlequin ichthyosis phenotype. Other causative molecules for ichthyoses are transglutaminase 1, keratins and filaggrin. Transglutaminase 1 plays a role in cornified cell envelope formation. Keratins 1, 10 and 2 are involved in the keratin network of suprabasal keratinocytes and filaggrin is essential for the formation of keratohyalin granules. It is important to obtain information concerning genetic defects and to elucidate ichthyotic disease pathomechanisms for the establishment of an effective therapy and beneficial genetic counseling, including a prenatal diagnosis for families affected by ichthyotic disease.     

Hyperkeratosis palmoplantaris with premature periodontal destruction (Papillon Lefevre syndrome)--report of two cases

Hyperkeratosis palmoplantaris or Papillon-Lefevre Syndrome (PLS) is a rare condition believed to be inherited as an autosomal recessive trait. The disease is characterized by hyperkeratosis of the palms and soles, with a concomitant severe periodontal destruction. This association between the skin and the oral lesions, offers greater possibility of differentiating the disease from other forms of palmoplantar hyperkeratosis or periodontal disease. In this report, hyperkeratosis palmoplantaris affecting two Sudanese children is discussed.     

The harlequin baby. Apropos of a case

Harlequin foetus is a rare clinical entity and consists in the most severe form of congenital ichthyosis. Here below, we report on a new case of Harlequin baby born from consanguineous first cousin parents. The underlying molecular basis of harlequin ichthyosis is still not definitely determined. Surviving of few cases is due essentially to the use of a synthetic Vitamin A acid. The benefit of that treatment is still questionable.     

Olmsted syndrome

Olmsted syndrome is a rare disorder characterized by symmetrical sharply marginated mutilating keratoderma of palms & soles & hyperkeratotic plaques around the body orifices, onychodystrophy, ainhum & amputation of digital phalanges, flextion deformities of the fingers, localized alopecia, leukokeratosis of the tongue, shortness of stature & laxity of large joints. Inheritance is autosomal dominant, although sporadic cases have been reported. Here we describe two cases of this rare disorder with thickened hyperkeratotic lesion over palm & soles & along with amputation of 3rd , 4th & 5th toes in one case. In one of our case (case no. 2) the immediate younger brother has got the same disease. Both of them were treated with tab. Neotegason 25 mg orally daily for 3 months & there was significant improvement after treatment.     

Harlequin ichthyosis in a neonate born with assisted reproductive technology: a case report

Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. Although prenatal diagnosis isdifficult for this disorder, recently, this obstacle has markedly improved with the use of DNA-based prenataldiagnosis. Here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology(ART). In this case, the diagnosis of harlequin ichthyosis was not established by conventional prenatal screening.     

Keratosis palmoplantaris associated with early-onset periodontitis: a case report

Keratosis palmoplantaris associated with periodontopathy or Papillon Lefevre syndrome is a very rare genetic disorder with autosomal recessive mode of inheritance and is characterized by hyperkeratosis of the palms and soles and early onset of a severe destructive periodontitis. The clinical presentation, differential diagnosis, therapeutic and periodontal management of an 8-year old male child diagnosed with this syndrome is discussed.     

阿维A、复方甘草酸苷注射液联合皮炎汤治疗红皮病型银屑病

目的观察阿维A、复方甘草酸苷注射液联合皮炎汤治疗红皮病型银屑病的临床疗效。方法将46例红皮病型银屑病患者随机分为对照组和治疗组。对照组22例,给予口服阿维A胶囊20～40 mg,1次.d-1;静脉滴注复方甘草酸苷注射液40～60 mL,1次.d-1,外用药为润肤霜及抗敏止痒霜（均为空军总医院自制）。治疗组24例,在对照组治疗基础上加用皮炎汤加减,每日1剂,分2次服。两组疗程均为8周。结果治疗组总有效率为91.67%,高于对照组的63.63%;两组患者均有口干、脱屑等不足,但治疗组不良反应明显轻于对照组。结论阿维A、复方甘草酸苷注射液治疗红皮病型银屑病疗效确切,加用皮炎汤可明显提高疗效,降低不良反应及复发率。     

猕猴掌纹特征的研究

目的　探讨猕猴的掌纹特征。方法　采用油墨印模法收集了 15只猕猴的手 (脚 )掌纹 ,并进行了分析。结果　猕猴的手 (脚 )掌纹呈现两大特点 ,即猕猴的指间区 ,小鱼际区 ,脚弓区纹型出现频率非常高 ,每个指 (趾 )间区纹型频率达 95 .5 %以上 ;手掌小鱼际区纹型频率 131.8% ;脚掌小鱼际区5 9.1% ;脚弓区 81.8%。且上述各区出现的纹型斗形纹频率最高 ,指间区斗形纹频率为 77.3% ,趾间区是 4 0 .9% ,手掌小鱼际区是 5 9.1%。结论　以上特点可作为灵长目分类的参考。