3个遗传性对称性色素异常症家系中DSRAD基因的突变

目的:检测国内3个遗传性对称性色素异常症家系中DSRAD基因的突变.方法:PCR扩增3个家系中成员DSRAD基因的全部外显子,并行DNA测序.以100例无关正常人作对照.结果:PCR结合DNA测序发现3个家系中患者均存在DSRAD基因的异常:家系A中第3220位碱基发生了C→T的杂合突变,对应1074位的精氨酸被半胱氨酸替代;家系B与家系C中发现的突变相同,为第3325位碱基发生了G→T的杂合突变,对应1109位的天冬氨酸被酪氨酸替代.家系中未患病者及无关正常人未发现相应突变.结论:此3个遗传性对称性色素异常症家系中存在DSRAD基因的特异性突变,突变可能使蛋白功能缺陷,导致临床上出现皮肤色素异常.     

Subclinical Infiltration of Basal Cell Carcinoma in Asian Patients: Assessment after Mohs Micrographic Surgery

Background

Several differences in basal cell carcinomas (BCCs) were found, according to the ethnic group; for example, pigmented BCCs was more common in Asian or Hispanic patients. However, there are few reports on the subclinical extension of the BCC in Asian patients.

Objective

The aim of this study was to evaluate the subclinical infiltration of the basal cell carcinoma in Asian patients.

Methods

All patients with BCC who visited the department of dermatology at Korea University Ansan Hospital were treated with Mohs micrographic surgery. In 81 patients, 83 tumors of BCC were completely eradicated by Mohs micrographic surgery (MMS) from April 2001 to August 2008, and were reviewed in this study. Information recorded included the total margin and the number of stages of Mohs micrographic surgery, anatomic location, tumor size, presence of pigmentation, clinical type, and pathological subtype. We divided the clinical types into nodular, ulcerated, and pigmented, and the pathological types into nodular, micronodular, morpheaform, and adenoid. The BCC was of pigmented type if pigmentation covered more than 25% of the tumor, regardless of whether pigmentation was distinct, or if there was apparent pigmentation that covered more than 10% of the tumor.

Results

The nose and cheek were the most common sites requiring more than one stage of surgery. In tumors smaller than 1 cm, 91.7% required only one stage of excision, compared with 60.6% in tumors larger than 1 cm. More than two Mohs stages were required in 25% of non-ulcerated BCCs and in 46.2% of ulcerated BCCs. Sixty eight percent of pigmented BCCs required only one stage of Mohs micrographic surgery. In cases of non-pigmented BCCs, only 45% required one Mohs stage. More than one Mohs stage was required in 19.2% of non-aggressive BCCs and in 42.9% of aggressive BCCs.

Conclusion

Subclinical infiltration differed between the two groups according to the size of the BCC (1 cm threshold) and most of the BCCs were located in the head and neck area. Considering this result, indication for MMS can be extended for BCCs larger than 1 cm in Asian patients. Ulcerated BCCs required more Mohs stages than non-ulcerated BCCs. Pigmented BCCs might show lesser subclinical infiltration than non-pigmented BCCs. Aggressive pathological subtypes showed more subclinical infiltration than the non-aggressive types; however, after evaluation of the border that was excised with MMS, mixed histologic types were found to be more frequent than generally accepted. Therefore, we consider that, when planning surgery, dermatologists should not place too much confidence in the pathologic subtypes identified by biopsy.     

Genetic predisposition to melanoma

Malignant melanoma is a rare, often fatal form of skin cancer with a complex multigenic etiology. The incidence of melanoma is increasing at an alarming rate. A number of heritable factors contribute to a patient’s overall melanoma risk, including response to ultraviolet light, nevus number, and pigmentation characteristics, such as eye and hair color. Approximately 5%–10% of melanoma cases are familial, yet the majority of familial cases lack identifiable germ-line mutations in known susceptibility genes. Additionally, most familial melanomas lack germ-line mutations in genes that are commonly mutated in sporadic melanoma. Candidate and systematic genome-wide association studies have led to an improved understanding of the risk factors for melanoma and the identification of susceptibility genes. In this review, we provide an overview of the major risk factors and known genes implicated in familial melanoma susceptibility.     

倍频Q开关掺钕钇铝石榴石激光治疗雀斑疗效观察

目的评估倍频Q开关掺钕钇铝石榴石激光治疗雀斑的疗效。方法总结2004年10月至2007年8月间治疗的47例雀斑患者的资料及治疗后外涂丁卡因凝胶的效果。结果治疗后6个月,47例患者中,治愈38例（80．9％）,显效8例（17．0％）,有效1例（2．1％）,总有效率100％。1年后治愈率为100％。治疗后3个月时有15例（31．9％）出现色素沉着,但于9个月内全部消退。治疗后外涂丁卡因凝胶的起效时间为20～70s,达到最大镇痛效果的时间为2～5min,可以减轻疼痛70％～100％。结论倍频Q开关Nd：YAG激光治疗雀斑有疗效好、不良反应少的优点。但可出现可逆性炎症后色素沉着。治疗后使用丁卡因凝胶,有较好的止痛效果。     

Hypopigmented macules of the limbs in two sisters: report on familial Bier spots

Bier spots are asymptomatic, small, irregular, hypopigmented macules characterized bya normal histological appearance, which are usually found on the arms and legs ofyoung adults. We describe the simultaneous presence of Bier spots in two siblings.This finding is unusual since, to the best of our knowledge, concurrent familialcases have never been reported in the literature.     

Infantile spasms and pigmentary mosaicism

We present a 3‐year‐old boy with pigmentary mosaicism and persistent intractable infantile spasms due to mosaicism of chromosome 7. Getting the diagnosis of pigmentary mosaicism in a child with infantile spasms may not be easy, as most diagnostic work‐up is done in infancy, at a time when skin manifestations can be subtle. We stress the need for a meticulous search for an etiology in cases of infantile spasms. Diagnostic work‐up should include a dermatologic evaluation with skin biopsies for fibroblast culture (and karyotyping) from abnormal pigmented skin areas.     

弥漫性色素沉着伴点状色素减退三例：一种新的色素性疾病？

报告3例特殊表现的色素异常性疾病。患者2男1女，年龄分别是13，15和11岁，自幼全身皮肤弥漫发黑，略呈铅灰色外观，同时在黑变的基础上出现密集点状白斑，随年龄增长逐渐明显。均无家族史。病理显示表皮基底层轻微黑变、灶性空泡化和真皮浅层色素失禁。患者的症状与目前报道的所有色素性疾病不能吻合，故作为一种新的单独的疾病加以报道。     

疏肝补肾法治疗女性肝郁肾虚型黄褐斑的临床观察

目的：观察疏肝补肾法治疗女性肝郁肾虚型黄褐斑的临床疗效。方法：采用随机对照方法,将70例中医分型为肝郁肾虚型的女性黄褐斑患者随机分为中药组和成药组,每组35例。中药组口服疏肝补肾汤,成药组口服六味地黄丸和逍遥丸,两组均外用广谱防晒霜。4周为1个疗程,连续治疗12周,观察治疗前后皮损区色素水平（黑色素、血红素）、MASI评分,比较两组临床疗效。结果：治疗12周后,两组患者皮损区色素水平、MASI评分均明显下降,中药组显效8例,好转20例,有效率80.0%,成药组显效2例,好转16例,有效率51.4%,中药组疗效优于成药组,两组比较,差异有统计学意义（P<0.05）。结论：疏肝补肾法通过减少黄褐斑面积、黑色素及血红素,能有效治疗女性肝郁肾虚型黄褐斑,中成药可作为中药治疗后的维持疗法。