播散性浅表性光线性汗孔角化症1例家系报告

播散性浅表性光线性汗孔角化症 (DSAP)是显性遗传的角化性皮肤病,最近我们遇到同一家族中 4代有 11人罹病,特报告如下。 先证者,男 26岁。 7岁时在鼻梁、颜面、四肢远端先后发疹并渐扩大,仅日晒后偶感微痒。体检：系统检查未见明显异常。皮肤科检查：颜面、躯干、四肢伸侧、外生殖器及臀部均见境界清楚、大小不等淡褐色斑片,散在或密集分布,边缘呈堤状隆起。无粘膜受累。病理检查示：角化过度,可见角化不全柱,下方颗粒层消失,真皮内呈慢性炎症浸润,诊断：汗孔角化症。 家系调查示：其家族 22人中有 11人发病 (见图 1),年龄在…     

播散性浅表性光线性汗孔角化症1例

播散性浅表性光线性汗孔角化症(disseminated superfical actinic porokoratosis,DSAP)属常染色体显性遗传病。但也有无遗传证据而散发于人群者.现将我们确诊1例中年以后发病患者报告如下。     

播散性浅表性光线性汗孔角化症一家系八例

先证者女,３７岁。因面、颈、上肢发生淡褐色角化斑２３年,于２００１年１０月２３日就诊。患者１９７８年在左前臂出现淡褐色斑点,渐增至黄豆大,无自觉症状。１３年前颜面、颈部、前臂至手出现同样皮疹,自觉痒甚,尤以始发及出汗时明显。曾到本院经激光治疗后遗浅色痘样瘢痕。体检：一般情况好。各系统检查无异常。皮肤科情况：颜面、颈项部、两前臂伸侧至手背见对称分布的粟粒至黄豆大、形态不一的淡褐色斑片近百个。皮损中央略凹,轻度萎缩,毳毛消失,边缘角化、狭窄呈嵴状,色较深如一圈黑线。部分皮损中央见针头大小的褐色角质栓…     

播散性浅表性光线性汗孔角化症一例及家系调查

患者,男,49岁。主因全身淡褐色丘疹、斑疹46年,于2010年9月5日就诊。患者自3岁起面部出现淡褐色皮疹,日光照射后加重,随着年龄增长皮损逐渐增多,四肢、躯干先后出现类似皮损,四肢皮损瘙痒,15年前四肢局部皮损出现疣状增生,     

播散性浅表性光线性汗孔角化症1例

<正>1临床资料患者男,79岁。前胸、后背、前臂及双小腿出现褐色斑3年。3年前无明显诱因患者前胸、后背、前臂及双小腿相继出现绿豆至甲盖大褐色丘疹和斑块,逐渐向周围扩展成环状,中央轻度萎缩,伴瘙痒,皮损缓慢增多。有"原发性高血压、腔隙性脑梗塞"病史多年,一直坚持治疗,具体用药不详。否认家     

播散性浅表性汗孔角化症一例

患者,男,67岁。因躯干、四肢对称性褐色斑片3年,近1年加重伴瘙痒来我院就诊。患者3年前无明显诱因前胸后背、四肢出现褐色斑疹,除偶有瘙痒外无其他症状,未予重视及诊治。     

播散性浅表性光线性汗孔角化病1例

患者女,39岁.面部褐色斑丘疹进行性加重8年,颈胸部、前臂远端伸侧、双手足背散在褐色斑丘疹1年于2010年9月2日至天津市长征医院皮肤科就诊.8年前患者孕期时无明显诱因面部出现数个形态不规则的淡红色斑疹,无自觉症状,皮疹呈离心性扩大,颜色逐渐加深,最终呈黑褐色,数目逐渐增多密集分布于整个面部;日晒后或心情抑郁时皮疹加重,且伴有轻度痒感.工作环境为24 h日光灯照射,患者面部曾长期使用含糖皮质激素的护肤品.家族成员中无类似疾病患者.     

播散性浅表性光线性汗孔角化病1例

患者男,52岁,藏族.双下肢角化性丘疹2年余,加重1年,于2008年5月至我院就诊.2年前患者无明显诱因于双下肢伸侧出现散在对称性浅褐色丘疹,约米粒大小,无自觉症状,未诊治.近1年皮损增多,累及双下肢屈侧和双七肢.伴瘙痒,皮损夏重冬轻.23年前曾因肝包虫病行手术治疗,半个月前诊断脑包虫病,可疑肺部包虫病.否认家族中有类似疾病患者.     

播散性浅表性光线性汗孔角化症1例

患者男,48岁,农民。因颜面、四肢角化性丘疹20年于2009年8月来我院就诊。患者20年前无明显诱因在四肢伸侧末端和颜面部出现初为圆形,约米粒大小的棕褐色丘疹,继而离心性扩大为边缘隆起的角化性堤状损害,日晒后轻度瘙痒．夏季明显,冬季可稍有减轻但不完全消退。未系统诊治。随年龄增长皮疹逐渐增多。既往对“磺胺”过敏,无近亲婚配史。否认家族史。     

Successful treatment of disseminated superficial actinic porokeratosis with Q-switched ruby laser

Porokeratosis, a cutaneous disorder that is characterized histologically by the presence of a "cornoid lamella", is a progressive disease with limited therapeutic modalities. We report a case of a 61-year-old man suffering from disseminated superficial actinic porokeratosis, one of the clinical types of porokeratosis, treated with Q-switched ruby laser, commonly used for the treatment of pigmented skin diseases. The laser therapy provided striking improvement and no clinical recurrence was noted.     

Disseminated superficial actinic porokeratosis with both typical and prurigo nodularis-like lesions

We report a 50-year-old Korean patient who developed a disseminated superficial actinic porokeratosis (DSAP) with two types of lesions. One was a typical DSAP lesion clinically and histopathologically. The other was clinically similar to prurigo nodularis, but histologic examination showed the findings of porokeratosis such as cornoid lamellae and loss of the granular layer in addition to those of chronic lichenified dermatitis, so it could be described as prurigo nodularis-like porokeratosis. The nodular lesions seemed to develop on preexisting typical lesions of DSAP mainly during the summer by the aggravation of pruritic symptoms and scratching associated with sun exposure. Although we could not find any published reports describing lesions like those of our case, we think that such prurigo nodularis-like porokeratosis can develop in patients with DSAP in some situations involving pruritus and scratching.     

Treatment of disseminated superficial actinic porokeratosis with topical diclofenac gel: a case series

Disseminated superficial actinic porokeratosis (DSAP) is the most common of the of five clinical variants of porokeratosis. These are disorders of keratinization and the distinctive pathological feature is the cornoid lamella at the margin. DSAP usually manifests in the third or fourth decades of life with a female preponderance and with multiple lesions over sun‐exposed areas. A diverse range of treatments is employed though evidence of efficacy remains largely anecdotal. We report a series of eight patients with DSAP treated with 3% diclofenac gel (Solaraze® gel).     

Disseminated superficial actinic porokeratosis with sterile spongiform pustular dermatitis

A 55-year-old woman with disseminated superficial actinic porokeratosis (DSAP) with sterile spongiform pustular dermatitis is described. The pustular dermatitis may have developed from friction of the DSAP lesions with clothes, gloves and/or stockings.     

播散性浅表性光化性汗孔角化症SLC17A9基因突变分析

目的：检测11例山东汉族播散性浅表性光化性汗孔角化症SLC17A9基因突变位点。方法：提取患者外周血DNA,采用PCR扩增患者SLC17A9基因的全部外显子及其侧翼序列,对PCR扩增产物直接测序检测。结果：11例DSAP患者的SLC17A9基因编码区的所有外显子均未发现突变。结论：本研究中11例DSAP患者的发病与SLC17A9基因的编码区序列无关。     

A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis

BACKGROUND: Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic disorder of keratinization, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, although two loci for DSAP have been identified, and the genetic basis and pathogenesis of this disorder have not been elucidated. OBJECTIVES: To determine the locus of DSAP and identify the candidate gene(s) of the disease. METHODS: Genome-wide scan and linkage analysis were performed in a six-generation Chinese family with DSAP. The coding exons of the candidate genes were sequenced to analyse and detect the nucleotide variations. RESULTS: Linkage analysis showed that the maximum two-point lod score of 5.56 was obtained with the marker D12S79 at a recombination fraction theta of 0.00. Haplotype analysis defined the critical region for DSAP between D12S330 and D12S1612 on 12q24.1-24.2. By sequence analysis, we found a Val591Met mutation in SART3 in all affected individuals of the family. CONCLUSION: SART3 is a candidate gene for DSAP, and is possibly involved in the pathogenesis of DSAP.     

Coexistence of congenital linear porokeratosis and disseminated superficial porokeratosis

The coexistence of two or more forms of porokeratosis in a single individual is rarely reported. We report here on a patient exhibiting the coexistence of congenital linear porokeratosis and disseminated superficial porokeratosis. To our knowledge, this entity has been previously reported only once.     

Inflammatory stage of disseminated superficial porokeratosis

Disseminated superficial porokeratosis (DSP) is a keratinization disorder characterized by multiple small lesions with a slightly elevated, sharply defined ridge over the whole body. Unusual DSP cases with acute exacerbation of their lesions accompanied by severe pruritus have been reported and designated as "eruptive pruritic papular porokeratosis" or "inflammatory DSP". Histologically, the pruritic lesions in the majority of these unusual DSP cases had a dense infiltration of eosinophils and lymphocytes in the vicinity of blood vessels in the upper dermis. In this report, we describe an additional case of DSP with a similar clinical course and histopathological findings. A review of the literature showed that the pruritic condition in these unusual DSP cases can be transient and is not necessarily related to spontaneous regression. We propose the term "Inflammatory stage of DSP" for describing this unusual variant of DSP.