Marie Unna遗传性少毛症一家系7例

遗传性少毛症(hereditary hypotrichosis)即先天性脱发症(congenital alopecia),临床罕见,有常染色体显性、隐性和性连锁三种遗传方式,Marie Unna遗传性少毛症(Marie Unna hereditary hypotrichosis, MUHH)属常染色体显性遗传,现将我们所见一家系报道如下.     

常染色体显性遗传性少毛症分子遗传学研究进展

遗传性少毛症是一种表现为毛发永久性部分或完全缺失的单基因遗传性疾病,按遗传异质性分为常染色体显性遗传、常染色体隐性遗传、X连锁显性遗传、X连锁隐性遗传。本文重点介绍常染色体显性遗传性少毛症的各种亚型:遗传性单纯性头皮性少毛症(HSS)、遗传性单纯性少毛症(HHS)、Marie Unna型少毛症(MUHH)、常染色体显性羊毛状发(ADWH)、生长期毛发松动综合征(LAHS)等分子遗传学研究进展。     

一雀斑家系遗传连锁分析

目的 报道1例雀斑及其三代家系，并对其致病基因进行遗传连锁分析。方法 选取位于4q和1号染色体的微卫星标记对该家系进行致病基因定位研究，用ABI3730测序仪进行微卫星标记的基因分型，利用Linkage软件（5.10 Version）和Cyrillic软件（2.01 Version）进行连锁和单倍型分析。结果 该家系在常染色体显性遗传模式下，外显率为99.9%时，排除该家系与4号染色体的连锁，在1号染色体上的微卫星标记D1S2635和D1S2844处获得可能连锁的证据，最大LOD值为1.50（重组率θ = 0.00）。单倍型分析将该家系可能的致病基因定位在微卫星标记D1S2624和D1S2799之间12 Mb区域内。结论 雀斑存在遗传异质性。在该家系中，本病可能的致病基因存在于染色体1q22-q24的21.2 cM区域内。     

全基因组扫描定位遗传性对称性色素异常症易感区域

目的 确定遗传性对称性色素异常症易感区域.方法 用覆盖全基因组22条常染色体的402个微卫星标记对2个遗传性对称性色素异常症大家系进行全基因组扫描,利用Linkage软件(5.10Version)和Cyrillic软件(2.01Version)进行连锁和单倍型分析.结果 常染色体显性遗传模式,外显率为100%时,在1号染色体上的微卫星标记D1S2343处获得最大累积LOD积分为8.85(重组率θ=0.00),其相邻2个标记D1S2696和D1S2345处的最大累积LOD积分分别为4.60(重组率θ=0.10)和8.54(重组率θ=0.00).单倍型分析将易感区域缩小至D1S2696和D1S2635之间11.6cM处.结论 染色体1q11-1q21区域存在遗传性对称性色素异常症易感基因.     

色素障碍性皮肤病

20 0 4 36 38　全基因组扫描定位遗传性对称性色素异常症易感区域 /高敏 (安徽医大皮研所 )… / /中华皮肤科杂志 .- 2 0 0 3,36 (12 ) .- 6 75～ 6 78用 4 0 2个微卫星标记对 2个遗传性对称性色素异常症 (HSD)家系进行全基因组扫描 ,并利用 Linkage软件和 Cyrillic软件进行连锁和单倍型分析。结果显示 ,HSD为常染色体显性遗传模式 ,外显率为 10 0 %时 ,在1号染色体上的微卫星标记 D1S2 343处获得最大累积LOD积分为 8.85 (重组率θ=0 .10 ) ,其相邻 2个标记D1S2 6 96和 D1S2 345处的最大累积 L OD积分为 4 .6 0(重组率θ=0 .10 )和 8.5 4(重组率θ=0 .0 0 )。单倍型分析将易感区域缩小至 D1S2 6 16和 D1S2 6 35之间 11.6 c M处。认为染色体 1q11- 1q2 1区域存在 HSD易感基因。图 2表 1参 4　 (张江安 )2 0 0 4 36 39　胸腺肽对白癜风患者疗效及对其免疫球蛋白的影响 /李其林 (暨南大学附四院 )… / /中国临床药理学...     

一遗传性单纯少毛症家系的基因定位

目的：确定一遗传性单纯少毛症家系的致病基因。方法：通过定位候选克隆技术，用ABI公司的商品化微卫星标记，进行全基因组扫描，明确致病基因的区域。结果：在微卫星标记D13S217处得到最高IDD值3．74（重组率θ=0．00）。结论：本研究将该遗传性单纯少毛症家系的致病基因定位于13号染色体上。     

原发性红斑性肢痛症致病基因的定位及突变研究

目的 对原发性红斑性肢痛症的致病基因进行定位及突变研究。方法 收集一个原发性红斑性肢痛症家系成员和一个散发病例的血样抽提基因组DNA，选用2号染色体长臂上已知致病区域的6个微卫星标记对该家系成员进行基因扫描，并对基因分型结果进行连锁分析及单倍型分析。PCR扩增SCN9A基因的全部外显子，并进行测序。针对所发现的突变以HphI、BsrSI内切酶行限制性片段长度多态性(RFLP)分析。结果连锁分析结果发现本家系在微卫星标记D2S2370和D2S2330的两点最大LOD值为2．11(重组率=0．00)，单倍型分析发现本家系在微卫星标记D2S1353和D2S2345存在重组。家系患者和散发病例均存在SCN9A基因第15外显子的错义杂合点突变：家系全部患者均存在T2573A杂合突变，散发病例存在T2543C杂合突变，分别导致Nav1．7第858位的亮氨酸被替换为组氨酸(L858H)及第848位的异亮氨酸被苏氨酸替换(1848T)。RFLP证实了正常对照无此突变。结论在世界上首次证明SCN9A基因是原发性红斑性肢痛症的候选致病基因。     

常染色体显性遗传性少毛症研究进展

常染色体显性遗传性少毛症是一组较少见的临床和遗传异质性较强的疾病,表现为出生时或出生后不久即出现头皮或身体其他部位的毛发稀疏甚至完全缺失。该病既可单独发病,也可以作为其他综合征的一项临床表型。根据遗传表型的不同,该病可分为单纯性遗传性少毛症、遗传性头皮单纯性少毛症、Marie Unna型遗传性少毛症及常染色体显性遗传性羊毛状发。该文针对单独发病的常染色体显性遗传性少毛症的遗传学研究进展作一综述。     

毛囊闭锁三联征一家系调查及基因研究

目的:确定一毛囊闭锁三联征(AI)家系的临床特点及易感位点连锁情况.方法:调查该家系临床资料,用1p21.1-1q25.3,6q25.1-25.2,D19S911-D19S1170和19q13.1-19q13.2易感基因位点附近的19个微卫星标记对该家系进行基因分型、连锁分析和单倍型分析.结果:该家系4代39人中13例患毛囊闭锁三联征,男8例,女5例,每代均有个体发病,符合常染色体显性遗传模式.经分析未发现上述位点与该家系存在连锁关系.结论:推断有新的易感位点与AI的发生有关,提示AI具有遗传异质性.     

q遗传性秃发／少毛症分子遗传学研究进展

遗传性秃发／少毛症是一组临床少见的遗传性脱发性疾病。近年确定多种遗传性秃发／少毛症的致病基因及其染色体定位,包括Marie—Unna型遗传性少毛症（U2HR,8p21．3）、常染色体显性遗传性单纯性少毛症（APCDDl,18p11．22;RPL21,13q12）、常染色体隐胜遗传性单纯性少毛症（DSG4,18q12．1;DSC3,18q21．1;LIPH,3q26—27;P2RY5,13q13—14;10q11．23—22．3;7p21．3-22-3）、常染色体隐陛遗传性羊毛状发（LIPH,3q26—27;P2RY5,13q13—14）、常染色体显性遗传性羊毛状发（KRT74,12q12—14）和毛囊性鱼鳞病一秃发一畏光综合征（MBTPS2,Xp22）。这些基因在毛囊发生和毛囊生长周期过程中具有重要的调控作用,各种致病性突变均可导致毛囊发生和生长异常,引起秃发／少毛症。     

New fillers for the new man

ABSTRACT:  Two new collagen-based lidocaine-containing dermal fillers, ArteSense™/ArteFill™ (Artes Medical, San Diego, CA) and Evolence® (Colbar LifeScience Ltd., Herzliya, Israel), have proved to be of particular interest to men, many of whom seek a long-lasting or permanent correction. ArteFill™ has been available in the United States since 2006, and it is expected that Evolence® will reach the American market in 2008. The properties of the two products will be described, and experience based on the administration of many hundreds of syringes of both products by a Canadian dermatologist will be detailed here, with tips and precautions to optimize patient outcomes.     

Outcomes and adverse effects of ablative vs nonablative lasers for skin resurfacing: A systematic review of 1093 patients

It is generally believed that ablative laser therapies result in prolonged healing and greater adverse events when compared with nonablative lasers for skin resurfacing. To evaluate the efficacy of ablative laser use for skin resurfacing and adverse events as a consequence of treatment in comparison to other modalities, a PRISMA‐compliant systematic review (Systematic Review Registration Number: 204016) of twelve electronic databases was conducted for the terms “ablative laser” and “skin resurfacing” from March 2002 until July 2020. Studies included meta‐analyses, randomized control trials, cohort studies, and case reports to facilitate evaluation of the data. All articles were evaluated for bias. The search strategy produced 34 studies. Of 1093 patients included in the studies of interest, adverse events were reported in a total of 106 patients (9.7%). Higher rates of adverse events were described in nonablative therapies (12.2% ± 2.19%, 31 events) when compared with ablative therapy (8.28% ± 2.46%, 81 events). 147 patients (13.4%) reported no side effects, 68 (6.22%) reported expected, transient self‐resolving events, and five (0.046%) presented with hypertrophic scarring. Excluding transient events, ablative lasers had fewer complications overall when compared with nonablative lasers (2.56% ± 2.19% vs 7.48% ± 3.29%). This systematic review suggests ablative laser use for skin resurfacing is a safe and effective modality to treat a range of pathologies from photodamage and acne scars to hidradenitis suppurativa and posttraumatic scarring from basal cell carcinoma excision. Further studies are needed, but these results suggest that ablative lasers are a superior, safe, and effective modality to treat damaged skin.     

Genetic alterations in RAS‐regulated pathway in acral lentiginous melanoma

Studies integrating clinicopathological and genetic features have revealed distinct patterns of genomic aberrations in Melanoma. Distributions of BRAF or NRAS mutations and gains of several oncogenes differ among melanoma subgroups, while 9p21 deletions are found in all melanoma subtypes. In the study, status of genes involved in cell cycle progression and apoptosis was evaluated in a panel of 17 frozen primary acral melanomas. NRAS mutations were found in 17% of the tumors. In contrast, BRAF mutations were not found. Gains of AURKA gene (20q13.3) were detected in 37.5% of samples, gains of CCND1 gene (11q13) or TERT gene (5p15.33) in 31.2% and gains of NRAS gene (1p13.2) in 25%. Alterations in 9p21 were identified in 69% of tumors. Gains of 11q13 and 20q13 were mutually exclusive, and 1p13.2 gain was associated with 5p15.33. Our findings showed that alterations in RAS‐related pathways are present in 87.5% of acral lentiginous melanomas.     

Self‐resolving superficial primary cutaneous mucormycosis in a 7‐week‐old infant

A 7‐week‐old girl, born at 30 weeks' gestational age, presented to clinic for evaluation of a crop of vesicular lesions that were noted after removal of a bandage that had been in place for 4 days. A punch biopsy of the lesion revealed fungal elements that were later identified as Rhizopus spp. The lesion began to self‐resolve, and no further treatment was needed, with full resolution of the lesion by 1 month after presentation. Clinicians should be aware of the variable presentations of mucormycosis and consider fungal infection in the differential diagnosis when evaluating vulnerable patients with skin eruptions.     

Multiple New-Onset Subcutaneous Nodules of the Upper Extremity Digits: Giant Cell Tumor of Tendon Sheath and Lipoma

A black woman with the concurrent onset of two subcutaneous nodules located on the digits of her upper extremities is described. Initially, a single systemic disorder was considered; yet, the lesions differed in morphology and consistency. Microscopic examination of the nodules showed a giant cell tumor of tendon sheath and a lipoma. Although Occam's “razor” suggests that multiple lesions in the same person are more likely to represent variable manifestations of a single disorder than several different diseases in that individual, the simultaneously appearing lesions in this patient represented two different conditions.