屈侧网状色素异常研究进展

屈侧网状色素异常是一种较为少见的常染色体显性遗传性皮肤病，主要的临床表现为躯体屈侧形态不规则网状色素沉着斑。色素沉着随着年龄增加而不断加重，通常表现为对称性泛发色素沉着，患者一般无自觉症状。随着国内外家系报道的不断增加，对该病的临床表现、发病机制等方面的研究已成为热点。     

威灵仙致接触性皮炎后色素异常

报告1例威灵仙致接触性白斑和色素性接触性皮炎。患者男，34岁。外敷威灵仙5个月后左腕关节屈侧皮肤出现色素减退斑、周围不规则色素沉着斑8个月。皮肤科检查：左腕关节屈侧皮肤见面积约4cm×4cm大不规则白斑，其周围有宽度不同、颜色均一的色素沉着斑，边界清楚。其他部位皮肤未见白斑或色素沉着斑。行威灵仙乙醇和水提物斑贴试验均为阳性。诊断：威灵仙致接触性白斑和色素性接触性皮炎。     

一家三代三人同患屈侧网状色素沉着症

屈侧网状色素沉着症又称Dowling-Degos病,为常染色体显性遗传性皮肤病,最近我们见到1例,并调查患者家族3代人,发现有3例类似患者,其中女2例,男1例,均在成年时发病.现报告如下.     

屈侧网状色素沉着一家系调查及KRT5基因突变检测北大核心CSCD

目的探讨屈侧网状色素沉着一家系患者的临床表现及其致病原因。方法对该家系进行调查,详细记录每例患者的临床表现,观察先证者的组织病理和超微结构,并对家系中3例患者的KRT5基因进行突变检测。结果该家系所有患者均表现为皱褶部网状色素沉着,背部及腹部表现特发性点状白斑。组织病理学和超微结构观察发现,表皮色素增加,角质形成细胞内有大量黑素颗粒,黑素细胞的数目无明显变化。KRT5基因突变检测,未发现突变。结论首次报道皱褶部网状色素沉着伴特发性白斑,家系中未检测到KRT5基因的突变,表明该病可能存在其他的致病基因。     

屈侧网状色素沉着一家系调查及KRT5基因突变检测

目的 探讨屈侧网状色素沉着一家系患者的临床表现及其致病原因。方法 对该家系进行调查,详细记录每例患者的临床表现,观察先证者的组织病理和超微结构,并对家系中3例患者的KRT5基因进行突变检测。 结果 该家系所有患者均表现为皱褶部网状色素沉着,背部及腹部表现特发性点状白斑。组织病理学和超微结构观察发现,表皮色素增加,角质形成细胞内有大量黑素颗粒,黑素细胞的数目无明显变化。KRT5基因突变检测,未发现突变。结论 首次报道皱褶部网状色素沉着伴特发性白斑,家系中未检测到KRT5基因的突变,表明该病可能存在其他的致病基因。     

B型色素性分界线母亲所生婴儿发生色素失禁症样皮疹

临床资料患者女,41岁.产后7周,发现双下肢屈侧皮肤条带状褐色分界线3个月就诊.本次为第二次妊娠,患者自妊娠8个月时发现双下肢屈侧皮肤颜色深浅不一,中间有明显的分界线,从踝部直至臀部,两侧对称,无任何自觉症状.否认长期服用避孕药史,家族中无类似患者.体检:系统检查无异常.皮肤科检查:双下肢屈内侧可见从踝部至臀部的明显的一条色素性分界线,两侧皮肤颜色深浅明显不同,较深侧随着远离分界线渐变淡.皮损表面无鳞屑、肥厚或萎缩(图1).此外患者腹中线加深,从剑突下延伸至耻骨联合上方条带状色素线.患者女儿,7周龄,为第二胎,足月顺产,发育正常,3周龄时发现双下肢不规则条带状棕色色素沉着斑,近4周色素沉着斑渐扩展至整个下肢,未出现红斑水疱.系统检查未见异常.皮肤科检查:双下肢棕色不规则色素沉着斑,对称分布,呈线状、斑片状(图2).拒绝行皮肤病理检查.     

遗传性皮肤病

单纯型大疱性表皮松解症一家系调查，Posini型大疱性表皮松解症1例，Hallopeau-Siemens型营养不良型大疱性表皮松解症一例产前诊断，胫前大疱性表皮松解症并发落叶型天疱疮1例，屈侧网状色素沉着一家系调查，遗传性对称性色素异常症一家系DSRAD基因新突变……     

维生素B_(12)缺乏引起可逆性皮肤和甲色素沉着伴白发

本文报道一例恶性贫血患者伴全身皮肤和甲色素沉着及白发。患者系东方男性,43岁。入院前一年发现手足出现较多色素沉着斑,后累及鼻面部,自觉无力。诊为贫血,予叶酸治疗。入院前一月全身皮肤色素沉着,指趾甲全呈蓝黑色,食欲减退,体重减轻,头发变白。体检示白发,全身皮肤广泛性色素沉着,包括掌跖,尤其是指关节、皮肤褶皱和屈     

一家族中8例患屈侧网状色素沉着症

患者女31岁,屈侧色素沉着15年,偶有瘙痒。检查见腹部、股内侧、外阴对称性褐色网状沉着斑点。组织病理显示毛囊角栓,表皮突下延,基底层色素增加,真皮层小血管周围炎性浸润。其家族中,4代中8人有类似病史。     

丘疹坏死性结核疹1例

丘疹坏死性结核疹是皮肤结核中较少见的一种类型.我们遇到1例报道如下. 临床资料患者女,32岁.因双下肢出现红斑、丘疹伴疼痛反复发作11年,2006年6月7日就诊于厦门市某医院皮肤科,当时,双下肢皮肤红斑、丘疹、凹陷萎缩性瘢痕及色素沉着,丘疹呈米粒至豌豆大小,色红,有触痛,部分皮疹中央有脓头、形成小溃疡或覆干涸性鳞屑痂,皮疹在双下肢伸、屈侧均有发现,尤以屈侧较密集.实验室检查:血常规和血沉正常.     

A gene locus responsible for reticulate pigmented anomaly of the flexures maps to chromosome 17p13.3

Reticulate pigmented anomaly of the flexures (RPAF), also called Dowling-Degos disease, is a rare autosomal-dominant cutaneous disorder characterized by spotted and reticulate pigmentation of the flexures. The gene, or even the chromosomal location, for RPAF has not yet been identified. In this study, one Chinese family with RPAF was identified and subjected to a genomewide screen for linkage analysis. We identified a locus at chromosome 17p13.3 with a maximum two-point limit of detection score of 3.61 at markers D17S831and D17S1866 (at recombination fraction theta=0.00). Haplotype analyses indicated that the disease gene is located within the 6.8 cM region distal to D17S1798. It is the first locus identified for RPAF. This study provides a map location for isolation of a disease gene causing RPAF.     

Dowling–Degos disease with dyschromatosis universalis hereditaria-like pigmentation in a family

Dowling-Degos disease is a rare autosomal dominant inherited pigmentary disorder characterized by reticulate pigmentation of the flexures, prominent comedone like lesions and pitted scars. Dyschromatosis universalis hereditaria is characterized by the presence of hypopigmented as well as hyperpigmented macules. We report a family showing features of both these diseases.     

Reticular pigmented anomaly of the flexures. Dowling-Degos disease of the intertrigo type in association with acne inversa

Reticulated pigmented anomaly of the flexures (Dowling-Degos disease) is a rare autosomal-dominant genodermatosis with variable penetrance that is characterized by reticulated hyperpigmentation of the flexures. Acne inversa has been previously described in the literature under several synonyms, such as acne triad, acne tetrad and hidradenitis suppurativa. Acne inversa is an inflammation affecting the pilosebaceous units of the flexures. We report a case of Dowling-Degos disease in association with acne inversa. The association of these diseases has been described several times and it appears not to be coincidental. Pathogenetic mechanisms leading to this coincidence are discussed.     

Atopic dermatitis in patients with normal and raised IgE levels

In a group of 535 children and 103 adult patients with atopic dermatitis no differences were observed between persons with normal and raised IgE level with respect to incidence of lesions in the first or the first three months of life, the total number of the positive RAST results and the most intense reactions, that is 4 degrees, the percent of helper and suppressor T-cells, duration of remission, darkening of lower eyelids, cheilitis, involvement of the hands, the feet, the elbow flexures or knee flexures. On the other hand, in individuals with raised IgE level, especially in patients with IgE level tenfold higher or more than normal, the co-existence of alergic diseases of the respiratory system, the appearance of itching after sweating, itching after emotion, pityriasis alba, and eczema of breasts were     

褶皱部网状色素异常1例并家系调查

患者女,52岁,胸腹部棕褐色丘疹斑片29年.既往体健,系统检查无异常.皮肤科情况:颈部、腋窝、乳房下等褶皱部密集分布棕褐色扁平丘疹或斑片,相互融合成网状.皮损组织病理示:表皮突呈鹿角状向下延长,真皮浅层血管周围少量淋巴细胞及组织细胞浸润,有散在噬色素细胞.家系调查显示家族4代中6人有类似皮损,男女各3人.诊断为褶皱部网...     

Amicrobial pustulosis associated with autoimmune diseases: healing with zinc supplementation

Amicrobial pustulosis associated with autoimmune diseases is an eruption involving the cutaneous flexures and scalp. We report two young women with this disease, in whom pustulosis healed with zinc supplementation. We suggest that it may be relevant to measure plasma zinc level in patients with such a disease.     

Epidermolytic hyperkeratosis

A 13-year-old boy presented to the dermatology clinic for treatment of a congenital ichthyosis with a history of generalized erythroderma and trauma related blistering at the time of birth. At the time of presentation he was noted to have red corrugated hyperkeratotic plaques involving the joint flexures, dorsal hands, and neck. Epidermolytic hyperkeratosis is a rare autosomal dominant genodermatosis that presents at birth with generalized erythema, blisters and erosions. In the subsequent months after birth erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. The disease is caused by mutations in either keratin 1 or keratin 10. Treatment options include urea or alpha-hydroxy acid containing creams as well as topical and systemic retinoids. Epidermolytic hyperkeratosis is also known as bullous congenital ichthyosiform erythroderma (of Brocq) and disorder of cornification type 3.