同卵双胎患着色性干皮病

两患儿．男，7岁．系同卵双胎(其母生产时的病历记录是一个胎盘)，出生时一切正常，约在1岁左右时．面部开始出现雀斑，并逐渐增多．3岁时来我院就诊，拟诊为着色性干皮病。告之避光．注意皮疹变化，随时复诊。随后两患儿在阳光强烈时很少外出，近2年来，因需上学．经常在白天外出，暴露部位的雀斑样痣增多较明显，且面部出现疣状物．无异常感觉，再次来我院就诊。患儿家族中无此病发生，父母均健康．非近亲结婚。     

兄妹同患着色性干皮病

例1.男,12岁;例2.女,8岁。两患儿系同父同母兄妹,于2013年8月就诊于我科。男孩3岁、女孩4岁时鼻背部出现褐色斑,约针尖至芝麻大,颜色由浅褐至棕褐不等。皮损渐渐增多波及整个面颈部、双上肢。皮损于日晒后明显加重。平素畏光、日晒后流泪。男孩面部渐渐出现芝麻大黑褐色丘疹,丘疹上覆薄碎鳞屑。女孩6岁时于鼻背部出现芝麻大黑色结节、斑     

兄弟2人同患着色性干皮病

着色性干皮病为一罕见的常染色件隐性遗传病。我们见到一家兄弟2人同患此病，现报道如下。     

姐弟3人同患着色性干皮病

着色性干皮病为一种少见的常染色体隐性遗传性皮肤病。我们见到一家姐弟 3人同患 ,且均发生了肿瘤 ,现报告如下。例 1　女 ,4 1岁 ,农民。因雀斑样色素沉着 30年 ,下唇肿块 1年余 ,于 1989年 6月就诊。患者 3岁时脸部、手背部等暴露部出现雀斑样色沉 ,皮肤干燥 ,日晒后加重。皮损渐向非暴露部发展 ,眼畏光、流泪。 1年余前下唇长 1肿块 ,由绿豆大渐增至蚕豆大 ,破溃渗液 ,有臭味 ,久治不愈。体检 :系统检查未见异常。皮肤科情况 :眼睑部、手背、前臂见较密集雀斑样色沉 ,间有斑状色素减退、毛细血管扩张。躯干、下肢皮损为散在较稀疏色沉。…     

着色性干皮病一家兄妹5例

着色性于皮病（XP）是一种少见的常染色体隐性遗传性皮肤病，人群中患病率达1／65000—1／100000，一家5人以上发病少见报道。临床上以皮肤干燥脱屑、雀斑样色素沉着，对光敏感，癌变率高为特点。大多数患者从儿童期即开始出现症状，幼年发病，多数青春期前死于皮肤癌。笔者见到一家系兄妹5人同患着色性于皮病，现报道如下。     

姐弟二人同患着色性干皮病伴先天性心脏病

例１女,１０岁,出生后４个月全身皮肤干燥,８～９个月时面部出现棕褐色斑点,渐双手、颈部亦出现类似皮疹且部分呈片状,日晒后皮疹加重,冬轻夏重,两年后皮疹固定不变,数量增加,微高出皮面,３岁时斑片皮疹间发出淡红色点状斑及疣状皮疹并反复出现大小不等之水疱,破溃、糜烂、结痂,脱痂后形成溃疡、瘢痕,反复不愈。患儿出生数月出现进行性紫绀、呼吸困难,尤以哭闹时加重。随年龄增长,活动后症状明显加重。患儿为足月顺产,其父母系姨表兄妹婚配,其弟患类似疾病已５年。体检:发育不良,营养欠佳;巩膜轻度黄染;咽充血,口腔粘膜及舌面散在分布白色萎…     

着色性干皮病

着色性干皮病(xeroderma pigmentosum,XP)是临床上罕见的常染色体隐性遗传性皮肤病。该病由DNA损伤修复缺陷所致,具有遗传异质性性,迄今共有7个互补组和1个变异型。本文就XP的病因、临床表现、基因型与表型之间关系、诊断和治疗等进行综述。     

着色性干皮病2例

我们诊治着色性干皮病2例,现报道如下.临床资料例1女,19岁.因面颈、四肢黑褐色斑16年就诊.患者3岁起,两面颊出现棕褐色针头大斑点,伴皮肤干燥,继之颈项及四肢暴露部位亦逐渐出现类似皮疹,无痛痒,冬轻夏重.近2年皮疹逐渐增多,颜色变深,部分融合成小片状黑褐色角化性丘疹及斑丘疹,以面部为著,双眼轻度畏光.患者系足月顺产,生长发育正常.患者家族中无此病患者,父母健康,非近亲结婚.体检：一般情况好,发育正常,智力中等.各系统检查无异常.     

着色性干皮病1例

着色性干皮病是一种罕见的常染色体隐性遗传性疾病。患者男 ,3 4岁。诊断为着色性干皮病伴发鳞癌和基底细胞癌。其兄亦为本病患者 ,但尚未伴发肿瘤。     

Xeroderma pigmentosum and lentigo maligna in identical twins

Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. Skin abnormalities result from an inability to repair UV-damaged DNA. Clinically, XP presents with early onset cutaneous changes (severe photosensitivity, actinic keratoses, and telangiectasias) and an increase of developing cutaneous malignancies beginning in early childhood, but lentigo maligna and melanomas are relatively rare. Here we report on homozygote twins in whom there was no positive family history. They showed subnormal physical growth. On ophthalmological examination, both had photophobia and decreased visual acuity. Since birth, several excisions had been performed for skin neoplasms. In one of them a pigmented patch developed over the frontal area which proved to be lentigo maligna and she was referred to a dermato-oncology center. They have been given isotretinoin and physical sunscreen since then. The follow-up period was extended to 2 years and no serious complications occurred from the above treatment. This is an interesting report about XP in twins with the presentation of the rare neoplasm lentigo maligna.     

Xeroderma pigmentosum

Xeroderma pigmentosum^1–11 is a rare, autosomal recessive disease. Affected patients have sun-sensitivity resulting in progressive degenerative changes of the skin and eyes, often leading to neoplasia. Some xeroderma pigmentosum patients have, in addition, progressive neurologic degeneration. Xeroderma pigmentosum is associated with defective DNA repair.This chapter will review the clinical and laboratory abnormalities that have been found in patients with xeroderma pigmentosum. It is an extension and an updating of earlier reviews.^2,11 Particular emphasis will be placed on describing the wide spectrum of clinical manifestations in this disorder and pointing out the genetic heterogeneity of the molecular defects. This review will include information on a previously unreported series of xeroderma pigmentosum patients observed in Israel.     

Xeroderma pigmentosum

Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. Xeroderma pigmentosum is based on a genetic defect in the DNA repair system. This disease manifests in early childhood. Patients with xeroderma pigmentosum have a marked sensitivity to sunlight and develop serious sunburns with onset of poikilodermia in the light-exposed skin. Squamous cell carcinomas, basal cell carcinomas and malignant melanomas already appear in childhood. The majority of patients die before reaching adulthood because of metastases. Genetically, xeroderma pigmentosum is divided into 7 complementation groups (XP-A to XP-G) and the xeroderma pigmentosum variants (XP-V). Diagnostically, assignment to the specific complementation group is made according to the fusioning of xeroderma pigmentosum fibroblasts. Differential diagnosis must distinguish xeroderma pigmentosum from other so-called DNA-repair-deficiency syndromes like the Cockayne Syndrome and trichothiodystrophy. Currently, there are reports of successful application of a topical DNA Repair Enzyme. This is a recombinant liposomal encapsulated T4 endonuclease V, which repairs UV-induced cyclobutan-pyrimidine dimers. In future, causal therapy could be based on gene therapy. The introduction of an intact repair gene which specifically codes the repair protein, could open new possibilities in the treatment of xeroderma pigmentosum.     

Xeroderma pigmentosum

Summary Unusual changes in the melanin pigmentary system were observed on a warty papule biopsy taken from a patient with xeroderma pigmentosum (XP). Degenerated melanocytes full of lipids were observed from the basal layer up to the middle of the epidermis. The melanosomes were polymorphous, variable in size and shape with very strange aspects, such as spider-like and whirling configurations. The structure of the macromelanosomes suggests that they are large autophagosomes. These findings are discussed and compared with previous studies.     

Xeroderma pigmentosum

Zusammenfassung Es wird über Untersuchungen an drei Xeroderma pigmentosum-Patienten berichtet. Bei ihnen fielen erhöhte Cu- und erniedrigte Glutathion-Spiegel im Serum auf, so daß damit optimale Bedingungen für die Melanogenese gegeben sind. Alle drei Kranken zeigten eine schnell auftretende und persistierende Hyperpigmentation nach Höhensonnenbestrahlung. Zwei Patienten schieden im Urin vermehrt Cystin und Methionin, eine Patientin vermehrt Tyrosin aus. Eine langfristige Therapie mit Vitamin A und E vermochte das Auftreten der Hyperpigmentierung nach UV-Strahlen zu unterdrücken und normalisierte den Cu-und Glutathion-Serum-Spiegel.Herrn Prof. Dr. S. Bommer zum 70. Geburtstag.