13例新生儿红斑狼疮的临床特征、皮损后遗表现

【摘要】 目的 探讨新生儿红斑狼疮（NLE）的皮损后遗表现，分析可能的相关因素。方法 回顾2016—2020年首都儿科研究所附属儿童医院皮肤科收集并长期随访的13例NLE，分析患儿及母亲临床特征、患儿皮损后遗表现。结果 13例皮损发病时间为出生后0 ~ 120 d，平均15 d，随访时间15 ~ 43个月，皮损形态主要为环状红斑、斑丘疹、鳞屑，皮损消退时间2 ~ 18个月（平均7.4个月）。6例皮损消退后出现色素异常表现，3例同时出现色素减退和色素沉着，2例仅有色素减退，1例仅有色素沉着，1例色素减退患儿在随访18个月后色素减退复色，未见毛细血管扩张以及萎缩或瘢痕。8例患儿母亲孕前无异常，4例患儿母亲抗ANA、抗SSA/Ro、抗SSB/La抗体均阳性。结论 NLE的皮肤受累可出现后遗皮肤表现，常见为色素异常，多数长期未消退，应注意患儿母亲可能存在的潜在性免疫系统异常。     

Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma

PurposeMore than half of the familial cutaneous melanomas have unknown genetic predisposition. This study aims at characterizing a novel melanoma susceptibility gene.MethodsWe performed exome and targeted sequencing in melanoma-prone families without any known melanoma susceptibility genes. We analyzed the expression of candidate gene DENND5A in melanoma samples in relation to pigmentation and UV signature. Functional studies were carried out using microscopic approaches and zebrafish model.ResultsWe identified a novel DENND5A truncating variant that segregated with melanoma in a Swedish family and 2 additional rare DENND5A variants, 1 of which segregated with the disease in an American family. We found that DENND5A is significantly enriched in pigmented melanoma tissue. Our functional studies show that loss of DENND5A function leads to decrease in melanin content in vitro and pigmentation defects in vivo. Mechanistically, harboring the truncating variant or being suppressed leads to DENND5A losing its interaction with SNX1 and its ability to transport the SNX1-associated vesicles from melanosomes. Consequently, untethered SNX1-premelanosome protein and redundant tyrosinase are redirected to lysosomal degradation by default, causing decrease in melanin content.ConclusionOur findings provide evidence of a physiological role of DENND5A in the skin context and link its variants to melanoma susceptibility.     

Haplotype distribution in a forensic full mtDNA genome database of admixed Southern Brazilians and its association with self-declared ancestry and pigmentation traits

Background:The advent of massively parallel sequencing (MPS) applications focused on the generation of forensic-quality full mitochondrial genome sequences led to a popularization of the technique on a global scale. However, the lack of forensic-graded population databases has refrained a wider adoption of full genome sequences as the industry standard, despite its better discrimination capacity of individual maternal lineages.Purpose:This work describes a forensic-oriented full mtDNA genome database comprised of 480 samples from a Southern Brazilian population.Methods:A collection of mitochondrial sequences were obtained from low-pass, full genome DNA sequencing results. The complete sample set was evaluated regarding haplotype composition and distribution. Summary statistics and forensic parameters were calculated and are presented for the database, with detailed information concerning the impact of removing genetic information in the form of specific variants or increasingly larger genomic regions. Interpopulational analysis comparing haplotypical diversity in Brazilian and 26 worldwide populations was also performed. The association between mitochondrial genetic variability and phenotypic diversity was also evaluated in populations, with self-declared ancestry and three distinct phenotypic pigmentation traits (eyes, skin and hair colors) as parameters.Results:The presented database can be used to evaluate mitochondrial-related genetic evidence, providing LR values of up to 20,465 for unobserved haplotypes. Haplotype distribution in Southern Brazil seems to be different than the remaining of the country, with a larger contribution of maternal lines with European origin. Despite association can be found between lighter and darker phenotypes or self-declared ancestry and haplotype distribution, prediction models cannot be reliably proposed due to the admixed nature of the Brazilian population.Conclusions:The proposed database provides a basis for statistical calculation and frequency estimation of full mitochondrial genomes, and can be part of an integrated, representative, national database comprising most of the genetic diversity of maternal lineages in the country.     

Case for diagnosis

Pigmentary demarcation lines are physiologically abrupt transition lines from areas of deeper pigmentation to less pigmented areas. They are most often seen in African and Japanese individuals and rarely observed in Caucasians. There are eight types of pigmentary demarcation lines. The one described here, type B, is restricted to women and is associated with pregnancy in non-black patients. This type of pigmentary demarcation line occurs in the posterior aspect of the legs, extending from the perineum to the ankle. Its distribution follows the Voigt''s lines, which define the distribution of peripheral nerves. Its pathogenesis remains unknown. Expectant treatment is used, and good results have been reported with the use of Q-switched Alexandrite laser.     

Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population

Panels composed of Single Nucleotide Polymorphisms (SNPs) in genes related to pigmentation, when associated with different phenotypes, may assist in predicting the physical appearance of an individual, being very useful in forensic caseworks. We evaluated the association of seven OCA2-HERC2 SNPs and haplotypes with pigmentation characteristics (eye, skin, hair and freckles) in the highly admixed and phenotypically heterogeneous Brazilian population. All the seven SNPs evaluated presented one allele associated with phenotypes from at least two pigmentation features and the alternative allele associated with the opposite phenotypes from the same trait. The genotypic associations followed the same pattern for all seven SNPs. Nine haplotypes were observed in our sample and eight were associated with at least two pigmentation traits. Such SNPs and haplotypes could be deemed as good predictors for the presence of freckles and for skin, eye and hair pigmentation in the Brazilian population.     

膝关节色素沉着绒毛结节性滑膜炎MRI表现

目的探讨膝关节色素沉着绒毛结节性滑膜炎的MRI表现,提高对该疾病的认识。方法对我院经手术病理证实的27例膝关节PVNS的MRI表现进行回顾性分析。结果 27例PVNS中,弥漫型者22例,局限型者5例。所有弥漫型PVNS患者均表现为滑膜呈绒毛状或结节状增厚,T1WI呈低信号,T2WI及PDW呈不均匀稍高信号,增强扫描滑膜明显强化。膝关节周围脂肪垫区、髌上囊及腘窝可见大小不等软组织结节影。增厚滑膜及结节内见条片状或点状异常信号影,T1WI呈低信号,T2WI呈低信号,无明显强化。9例伴有关节软骨及软骨下骨破坏。前后交叉韧带受累1例。所有患者见不同程度关节积液。局限型者表现为关节腔内单发的软组织肿块,伴关节积液。结论膝关节PVNS具有较特征的MRI表现,MRI是诊断PVNS的首选方法。     

E光治疗面部皮肤色素性疾病的临床观察

目的探讨E光治疗面部皮肤常见色素性疾病的临床疗效。方法采用E光治疗仪,使用波长532nm的治疗头治疗面部皮肤常见色素性病变（雀斑、早期脂溢性角化病、黄褐斑、痤疮后色素沉着）242例,4次为1个疗程,每次治疗间隔时间4周,每位患者治疗前后对比拍照、记录参数并进行临床疗效评估。结果 242例患者中各种病变的有效率依次分别为：雀斑95%,早期脂溢性角化病93.55%,痤疮后色素沉着93.65%,黄褐斑17.54%。结论 E光治疗仪治疗面部皮肤常见色素性疾病雀斑、早期脂溢性角化病和痤疮后色素沉着效果好,对黄褐斑疗效不确切。242例患者无1例发生疤痕、色素沉着及色素减退,不良反应少,值得推广应用。     

中药面膜结合皮肤护理治疗面部烧伤后色素沉着

目的 观察中药面膜结合皮肤护理治疗面部烧伤后色素沉着的效果.方法 选择2009年1月-2010年6月笔者单位收治的面部烧伤后色素沉着患者41例,按就诊顺序分为治疗组(奇数序号)26例和对照组(偶数序号)15例.给予洗面、局部按摩及蒸气喷雾等综合皮肤护理后,治疗组与对照组分别采用笔者单位自行研制的中药面膜和市售普通美容面膜外敷,干透后去除,隔日1次,10次为1个疗程,持续治疗3个疗程.于治疗前及各疗程末采用温哥华色素瘢痕评定量表测定患者皮肤色差,以计算机图像分析技术测量色素沉着区皮肤图像灰度值.统计各疗程末医患双方满意度,记录不良反心情况,比较2组总体疗效.对数据行x2检验或t检验.结果 治疗前2组患者皮肤色差及图像灰度值相近(t值分别为0.800和0.694,P值均大于0.05).治疗组各疗程末皮肤色差、图像灰度值及医患双方满意度均优于对照组.3个疗程结束后,治疗组及对照组皮肤色差得分分别为(0.5±0.4)分和(1.1±0.6)分,图像灰度值分别为55±5和66±6,组间比较差异均有统计学意义(t值分别为3.389和5.102,P值均小于0.01).治疗组总有效率为92.3%,明显优于对照组的53.3%(x2=6.31,P＜0.05).治疗过程中末见中药面膜引起的过敏反应.结论 中药面膜结合皮肤护理是治疗面部烧伤后色素沉着的有效方法.     

Effects of bilateral and unilateral ophthalmectomy on plasma melatonin in Rana tadpoles and froglets under various experimental conditions

The effect of ophthalmectomy (enucleation) on plasma melatonin in Rana tadpoles and froglets was studied under various experimental conditions to determine if ocular melatonin is released into the circulation from the eyes and to study the factors which might affect this process. Where operations occurred in early or mid-photophase on a 12 light:12 dark (12L:12D) cycle (light onset at 08:00 h), sampling in mid-light and mid-dark revealed that scotophase plasma melatonin was reduced at all developmental stages, with the more significant effects occurring before metamorphic climax. Experiments sampling prometamorphic tadpoles six times in a 24h period on 18L:6D, 12L:12D, or 6L:18D five days after enucleation also showed a significant lowering of plasma melatonin in the dark, so that the scotophase peak was virtually eliminated on all the LD cycles. These findings indicated that the reduction in plasma melatonin after bilateral eye removal was independent of the LD cycle and the metamorphic stage, and that it abolished the diel melatonin rhythm at the expense of the scotophase peak. Experiments carried out for 5 weeks suggested that compensatory secretion of melatonin by other organs after eye removal might partially restore the plasma melatonin level over time. Unilateral ophthalmectomy tended to reduce, but not eliminate, the night peak of plasma melatonin, and did not result in a compensatory increase in ocular melatonin in the remaining eye. Ophthalmectomized tadpoles exhibited darkening of the skin after the operation, which was not associated with a significant change in pituitary alpha-melanotropin. The findings overall indicate that the eyes in Rana tadpoles and froglets contribute up to somewhat over one-half of the circulating melatonin, particularly during the scotophase, and provide experimental evidence for ocular secretion into the blood for the first time in the Amphibia.