掌跖角化牙周病综合征一例

患者女,10岁。因双手足红斑、干裂、脱屑8年就诊。患者自2岁时开始出现双手背、足底红斑,皮肤干燥、粗糙、增厚,表面有脱屑,冬季加重,出现龟裂导致疼痛。既往史:该患者系足月产,但自幼体质差,常易患感冒。8岁时仍无牙齿萌出,到当地医院行牙龈切开术后牙齿     

掌跖角化伴牙周病综合征1例

患儿男，4岁。因双手掌和足跖皮肤角化、增厚2年，胶牙牙根暴露，牙齿脱落1年，于2004年3月9日来本院皮肤科就诊。患儿2岁时出现双手掌和足跖皮肤角化；增厚和脱皮现象，逐渐加重，并伴肘膝关节皮肤增厚和脱皮现象。曾在当地医院就诊，诊断为“掌跖角皮症”，口服及外用药物治疗（具体不详）无明显效果。     

掌跖角化症并发牙周病

报告1例掌跖角化症并发牙周病。患者男,17岁。其父母近亲结婚,患者于婴儿期出现掌跖角化,直到恒牙萌出时牙周组织才出现破坏。根据以上特点诊断为掌跖角化症并发牙周病。     

掌跖皮肤角化病与相关综合征

重点叙述了近年来有关掌跖角化病的临床特点、分类和相关综合征。讨论了治疗的选择。对某些类型的掌跖角化病作了超微结构研究和生化分析,这些将有助于皮肤角化病的分类。     

掌跖角皮症-牙周病综合征

报告1例掌跖角皮症-牙周病综合征.患者男,24岁.2岁时出现掌跖角化,并进行性加重,于14岁时牙周组织出现破坏,甲呈钩形.根据以上特点诊断为掌跖角皮症-牙周病综合征.给予阿维A 30 mg每日1次,复方水杨酸软膏(本院自制)及0.1%维A酸软膏外用,取得明显效果.     

掌跖皮肤角化病与相关综合征

重点叙述了近年来有关掌跖角化病的临床特点，分类和相关综合征，讨论了治疗的选择，对某些类型的掌跖角化病作了超微结构研究和生化分析，这些将有助于皮肤角化病的分类。     

点状掌跖角化病1例

临床资料患者,男,68岁。主因双手掌、双足底皮肤角化30余年,于2010年5月25日诊。患者30余年前无明显诱因双手掌、双足底出现针尖至米粒大小角     

局限性掌跖角化不足1例

<正>1病历摘要患儿男,10岁。左足内侧缘凹陷性红斑10年,于2016年1月25日来我院就诊。患儿出生时左足内侧缘出现界限清楚的红斑,边缘覆有鳞屑,中央凹陷,无疼痛及瘙痒等不适,随年龄增大皮损无明显变化。家族中无类似疾病患者。皮肤科检查:左足内侧缘一约3.5 cm×1.1 cm的椭     

遗传性掌跖角化病1例报告

遗传性掌跖角化病１例报告冶娟（青海医院附属医院皮肤科，８１０００１）遗传性掌跖角化病系临床少见疾病，现报告一例如下：郭某某，男５８岁，汉族，青海贵德县大史家村，农民，因“双手掌，足底皮肤增厚发硬５０余年”于１９９３年９月２５日来我院就诊。患者出生后双...     

弥漫性掌跖角化病一家系16例

先证者男,24岁,患者2岁起双手掌,足底皮肤出现角化过度,皮肤表面出现细小裂纹,并有不同程度的增厚,随年龄增长,病情逐渐发展,皮损为光滑,硬化面均匀,半透明,蜡黄色,逐渐延伸至掌跖侧缘,皮肤科情况：掌跖角化明显,累及整个手掌或足底,局部皮肤增厚,失去弹性,足底和手掌粗糙不平,皮肤纹理处发生缝裂,部分裂口很深,患者既往健康,智力正常。毛发、牙齿发育均正常。     

A novel mutation in the cathepsin C gene in a Pakistani family with Papillon‐Lefevre syndrome

Background Papillon‐Lefevre syndrome (PLS; OMlM 245000) is an autosomal recessive disease caused by mutations in cathepsin C (CTSC) gene and is characterized by palmoplantar keratoderma, psoriasiform lesion over the extensor surfaces and gingivitis followed by loss of teeth. CTSC gene is expressed in several tissues including the skin and cells of the immune system. In the skin, CTSC plays a role in differentiation and desquamation, whereas in the immune system, it activates serine proteases. Objectives We analysed the molecular basis of PLS in a Pakistani family. Methods Genomic DNA was isolated from the sample according to standard techniques. All exons of the CTSC gene with adjacent sequences of exon–intron borders were amplified by PCR and directly sequenced. Results We identified a novel deletion mutation designated c.2ldelG (Leu7PhefsX57) in exon 1 of the CTSC gene, which probably results in the absence of CTSC protein. Conclusion Our data further expand the spectrum of mutations in the CTSC gene underlying PLS.     

[开放获取] Iso-Kikuchi综合征2例

【摘要】 报道2例Iso-Kikuchi综合征,均为先天性发病。例1女,7个月,因左手食指甲板异常7个月就诊;例2男,3岁,因左手食指甲板异常3年余就诊。2例均表现为左手食指中央无正常甲板,甲床两侧各有1个微小、独立的甲板。结合临床特点,2例均诊断为Iso-Kikuchi综合征。本文例1母亲孕期有使用黄体酮保胎史,2例患儿母亲孕期均因甲状腺功能减退症持续服用甲状腺激素治疗,且例2的母亲有妊娠期糖尿病病史。尚不能明确这些疾病和药物是否与Iso-Kikuchi综合征有直接关系。     

Olmsted syndrome: report of two new cases and literature review

Olmsted syndrome is a rare keratinization disorder; 18 cases have been published so far. It associates a mutilating cogenital palmoplantar keratoderma with periorificial erythematokeratotic lesions. We report herein two new unrelated male children with Olmsted syndrome (OS), one of whom was studied by light and electron microscopy. Our histological, immunohistochemical, and ultrastructural findings suggest that this disease is related to epidermal hyperproliferation. We present herein a review of the twenty cases published so far and discuss the major clinicopathological and genetic features of this disease.     

Marshall-White综合征12例分析

12例Marshall-White综合征中男8例,女4例,平均年龄(24.42±3.88)岁。表现为四肢呈对称性暗红或淡红色,夹杂直径为0.2～2.0cm的白斑,如大理石样,下垂、加压或者屈曲肢体时红斑、白斑对比更明显,平卧或抬高患肢至心脏水平或压迫时红斑消退。笔者认为Marshall-White综合征中的白斑是局部血管收缩的结果或系正常皮肤,而红斑是血管扩张的结果。     

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.     

Sjogren-Larsson syndrome: report of two cases

Two cases of Sjogren-Larsson syndrome are discussed along with a review of the literature. Both the patients had generalized ichthyosis, spastic paraplegia, mental retardation and ophthalmologic examination showing glistening foveal and parafoveal dots.     

Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype

Papillon–Lefevre syndrome and Haim Munk syndrome are palmoplantar keratodermas associated with premature periodontal destruction. The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. Both are associated with mutations in the lysosomal protease cathepsin C. We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C.     

Complex ocular choristomas in linear nevus sebaceus syndrome: a report of two cases.

Two cases of linear nevus sebaceus syndrome (LNSS) are described in which ipsilateral facial nevus of Jadassohn was associated with complex ocular choristoma. One patient also had scleral osteomas, a rare occurrence in LNSS.     

Pregabalin in the treatment of red scrotum syndrome: a report of two cases

Red scrotum syndrome is a poorly understood, chronic dysesthetic erythema primarily involving the anterior scrotum. Previous reports have indicated that red scrotum syndrome is occasionally responsive to oral doxycycline and oral gabapentin. Otherwise, few therapies have proven successful in treating the disorder. We report two cases of red scrotum syndrome responding to oral pregabalin, an anticonvulsant medication commonly used for neuropathic pain. These two cases suggest pregabalin as an effective means for treating red scrotum syndrome and endorse a neuropathic etiology.