Two sisters resembling Gorlin-Chaudhry-Moss syndrome

The Gorlin-Chaudhry-Moss syndrome (GCMS), was describe initially by Gorlin et al. [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal intelligence. Two other sporadic instances have been documented. Here, we report on two sisters with a condition with some similarities to GCMS as well as some differences, which could represent either previously unreported variability in GCMS, or it may represent a novel disorder.     

小阴唇整形术专家共识（2020年版）

        随着社会的发展,人们对美的追求越来越高,小阴唇整形也逐渐受到人们的关注。尽管小阴唇整形术方法有很多,但手术指征、手术方式选择、围术期管理及术后并发症防治等缺乏统一的标准［1-2］。中国整形美容协会女性生殖整复分会组织专家,根据文献报道［3］和专家经验,经过反复的讨论和修改,对小阴唇整形术提出如下共识,以期为临床医生对小阴唇肥大的诊治及整形决策提供参考及借鉴。 浏览更多请关注本刊微信公众号及当期杂志。     

55例婴幼儿小阴唇粘连的诊治

目的：探讨婴幼儿小阴唇粘连的临床特点、发病原因，诊断治疗。方法：回顾55例小阴唇粘连幼女的临床资料。年龄4月～3岁，中位年龄15个月，均以生殖道畸形就诊。其中27例可追问到曾有外阴充血分泌物病史。结果：本组55例中，38例为部分小阴唇粘连，17例为全部小阴唇粘连。采用分离术治疗，其中3例1月后再粘连，再次分离。无分离后感染发生。随诊1年均全部治愈。结论：婴幼儿小阴唇粘连诊断容易，分离术治疗效果好，适宜在各级医疗机构开展。     

中央楔形切除及非对称性Z形切口法小阴唇缩小术

目的 探讨中央楔形切除及非对称性Z形切口小阴唇缩小术的临床应用效果.方法 在借鉴Giraldo术式基础上,提出了数值化的切口设计和组织切除;改变Z形切口为不对称的矩形瓣加斜行切口;小阴唇内外侧面反向设计.整形后的小阴唇近游离缘为两个矩形瓣相嵌合,其再与近小阴唇基底部的一斜行切口线相接.小阴唇内外两侧面的切口分别为反向设计.使之两侧面的切口相互错开,没有明显重叠.结果 应用治疗11例小阴唇肥大患者,小阴唇游离缘弧度自然、切口两侧无明显色差.结论 本术式定点准确,设计规则,掌握容易,适应证广,对不同程度的小阴唇肥大均适用.     

Oestrogen receptors and their relation to neural receptive tissue of the labia minora

Associate Editor Michael G. Wyllie Editorial Board Ian Eardley, UK Jean Fourcroy, USA Sidney Glina, Brazil Julia Heiman, USA Chris McMahon, Australia Bob Millar, UK Alvaro Morales, Canada Michael Perelman, USA Marcel Waldinger, Netherlands

OBJECTIVE

To assess the cellular distributions of oestrogen receptors α and β (ERα and ERβ) and neuronal nitric oxide synthase (nNOS) in the labia minora, as knowledge about ER type and function may clarify the role of oestrogens in vaginal scar formation and improve outcomes in female genital surgery.

SUBJECTS AND METHODS

Labial samples were taken from 10 girls (aged 2–9 years) who underwent surgery for labial fusion. The waste tissue strips obtained were used for immunohistochemical identification of ERα and ERβ, and nNOS in the labia minora.

RESULTS

There was ERα nuclear staining in the stroma of the labia minora close to the clitoris, and basal and suprabasal in the epidermal cells membrane restricted to superficial sections of the labia minora. ERβ was found in the stroma of the labia minora closer to the clitoris and in superficial sections, in the basal epidermal cells membrane and apocrine glandular epithelial cells membrane. There was also ERβ cell membrane staining in the basal and suprabasal epithelial cells and fibroblasts in the lamina propria.

CONCLUSIONS

Established ER presence allows the consideration of the introitus of the vagina as a target for oestrogen therapy in various clinical and surgical situations. Continuing elucidation of the immunohistochemistry of this external genital tissue might assist in the development of molecular tools to treat genital abnormalities. Details of this immunohistochemistry may also advance the understanding of the effects of sexual differentiation on the brain and other organ systems.     

Unilateral hypertrophy of the labia minora: A case series

Asymmetric hypertrophy of the labia minora is a variant of normal anatomy that has not been described in the pediatric dermatology literature. Although often asymptomatic, in some cases, it can cause functional, emotional, and psychological problems. We report the clinical characteristics and outcomes of four children who presented with unilateral labium minus hypertrophy. This case series aims to establish awareness of this condition among pediatric dermatologists and provide recommendations regarding management.     

Functional morphology of the sound-generating labia in the syrinx of two songbird species

In songbirds, two sound sources inside the syrinx are used to produce the primary sound. Laterally positioned labia are passively set into vibration, thus interrupting a passing air stream. Together with subsyringeal pressure, the size and tension of the labia determine the spectral characteristics of the primary sound. Very little is known about how the histological composition and morphology of the labia affect their function as sound generators. Here we related the size and microstructure of the labia to their acoustic function in two songbird species with different acoustic characteristics, the white-crowned sparrow and zebra finch. Histological serial sections of the syrinx and different staining techniques were used to identify collagen, elastin and hyaluronan as extracellular matrix components. The distribution and orientation of elastic fibers indicated that the labia in white-crowned sparrows are multi-layered structures, whereas they are more uniformly structured in the zebra finch. Collagen and hyaluronan were evenly distributed in both species. A multi-layered composition could give rise to complex viscoelastic properties of each sound source. We also measured labia size. Variability was found along the dorso-ventral axis in both species. Lateral asymmetry was identified in some individuals but not consistently at the species level. Different size between the left and right sound sources could provide a morphological basis for the acoustic specialization of each sound generator, but only in some individuals. The inconsistency of its presence requires the investigation of alternative explanations, e.g. differences in viscoelastic properties of the labia of the left and right syrinx. Furthermore, we identified attachments of syringeal muscles to the labia as well as to bronchial half rings and suggest a mechanism for their biomechanical function.     

婴幼儿小阴唇粘连原因分析与护理

调查分析126例小阴唇粘连的婴幼儿情况,探讨导致婴幼儿小阴唇粘连的原因,针对分析结果提出护理对策。本组患儿居住地农村（城郊）的占72.2%,高于居住在城市的患儿所占比例（27.8%）,患儿发病年龄多小于3岁,占92.9%。4.8%的家属不了解此病,缺乏婴幼儿外阴护理的基本知识,不知道清洗或不敢洗;33.3%的患儿家属为患儿清洗外阴,但清洗方法不正确,尚未把小阴唇内的分泌物清洗干净;21.4%的患儿便后仅是干抹,不给予清洗;37.3%的幼儿穿开档裤,随地坐卧;有婴幼儿换尿布不及时等。由于女婴的生殖道解剖及生理特点易发生外阴感染,患儿家属的卫生保健知识缺乏,农村地区经济欠发达,卫生条件和医疗水平薄弱,故加强婴幼儿生殖系统卫生健康宣教和提高农村居民的健康意识和医疗护理水平对防治婴幼儿小阴唇粘连非常重要。     

Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation

Interstitial 2q36 deletion is a rare event. We report on a patient with a de novo del(2)(q36.2q36.3) interstitial deletion of the long arm of chromosome 2 diagnosed by classical banding. The phenotype comprised facial dysmorphism, enlarged kidneys with multiple renal cysts, abnormal minora labia, asymmetric lower limbs with dysplastic patella, and severe mental retardation. By physical mapping, using array-comparative genomic hybridisation (CGH) confirmed by Fluorescent In Situ Hybridisation (FISH), the breakpoints of the deletion were mapped and the size of the deletions was measured: 5.61 ± 0.19 Mb. A skin biopsy was analysed using electronic microscopy showing an alteration of the structure and organisation of the dermal and peri-neuronal basement membrane. The relation between the phenotype and the deletion of both COL4A4 and COL4A3 genes, located in 2q36.3 loci, as well as the disruption of TRIP12 were discussed.