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Clinical and histopathological characteristics in patients with scarring folliculitis type of acne inversa. 瘢痕性毛囊炎型痤疮患者的临床和组织病理学特征。
Pub Date : 2017-10-04 eCollection Date: 2017-01-01 DOI: 10.1080/19381980.2017.1361575
Lingyi Lu, Huiying Lai, Zhanyan Pan, Tingting Hu, Xiaoxiao Hou, Ke Cao, Qiang Ju

Objective: This study was designed to study the clinical and histopathological characteristics of patients with the scarring folliculitis type acne inversa in Chinese population. Methods: A total of 21 patients with acne inversa and 6 controls without known dermatological disease were recruited from outpatient department of dermatology and orthopedic surgery. Two-millimeter punch biopsies were taken from 8 patients with acne inversa and 6 controls, fixed in formalin, embedded in paraffin and stained with haematoxylin and eosin prior to histopathological analysis. Results: There were 12 patients (57.14%) belonging to the scarring folliculitis type presented with double comedones, papules, nodules, depressed scars, and were mainly Hurley stage I (66.67%). Many of the scarring folliculitis type were smokers (58.33%), some had a history of occupational exposure (41.67%) and some were overweight (50%), the mean BMI of which is 25.18±3.16 kg/m2. Histopathological changes such as perifollicular inflammation can be observed in scarring folliculitis type of acne inversa and controls as well. However, epidermal hyperplasia, follicular hyperplasia, sebaceous gland disappearance, destruction of hair follicle and sebaceous gland, collagen hyperplasia, perivascular inflammation, granulomatous inflammation, Micro thrombus were only seen in scarring folliculitis type. The mean surface area in patients (8073.36±15798.43 μm2) was smaller than that in controls (302059.08±502813.78 μm2), with statistically significant difference. (P = 0.024). Conclusion: The scarring folliculitis type in acne inversa in Chinese population could be characterized by depressed scars, double-ended comedones, epidermal cysts and had high proportion of smokers, or occupational exposure with lower Hurley stage, as well as diminished sebaceous gland. Further studies are needed to clarify the relations between the clinical subtypes of acne inversa and their corresponding genetypes.

目的:研究中国人群瘢痕性毛囊炎型痤疮患者的临床和组织病理学特点。方法:选取皮肤科骨科门诊的21例痤疮反向患者和6例无已知皮肤病的对照组。对8例痤疮患者和6例对照组进行2毫米穿刺活检,用福尔马林固定,石蜡包埋,并用苏木精和伊红染色进行组织病理学分析。结果:瘢痕性毛囊炎型患者12例(57.14%),表现为双头粉刺、丘疹、结节、凹陷疤痕,以Hurley期为主(66.67%)。瘢痕性毛囊炎型多为吸烟者(58.33%),部分有职业暴露史(41.67%),部分体重超标(50%),平均BMI为25.18±3.16 kg/m2。组织病理学改变,如毛囊周围炎症可以观察到疤痕性毛囊炎类型的痤疮反过来和对照组。表皮增生、毛囊增生、皮脂腺消失、毛囊及皮脂腺破坏、胶原蛋白增生、血管周围炎症、肉芽肿性炎症、微血栓仅见于瘢痕性毛囊炎型。患者的平均表面积(8073.36±15798.43 μm2)小于对照组(302059.08±502813.78 μm2),差异有统计学意义。(p = 0.024)。结论:中国人群痤疮型瘢痕性毛囊炎以凹陷疤痕、双头粉刺、表皮囊肿为特征,吸烟者或职业暴露者比例高,Hurley期较低,皮脂腺减少。需要进一步的研究来阐明痤疮的临床亚型与其相应的基因型之间的关系。
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引用次数: 7
Rosacea: Epidemiology, pathogenesis, and treatment. 酒渣鼻:流行病学、发病机制和治疗。
Pub Date : 2017-10-04 eCollection Date: 2017-01-01 DOI: 10.1080/19381980.2017.1361574
Barbara M Rainer, Sewon Kang, Anna L Chien

Rosacea is a chronic relapsing inflammatory skin disease with a high prevalence among adults of Northern European heritage with fair skin. Symptoms present in various combinations and severity, often fluctuating between periods of exacerbation and remission. Based on morphological characteristics, rosacea is generally classified into four major subtypes: erythematotelangiectatic, papulopustular, phymatous, and ocular. Diverse environmental and endogenous factors have been shown to stimulate an augmented innate immune response and neurovascular dysregulation; however, rosacea's exact pathogenesis is still unclear. An evidence-based approach is essential in delineating differences between the many available treatments. Because of the diverse presentations of rosacea, approaches to treatment must be individualized based on the disease severity, quality-of-life implications, comorbidities, trigger factors, and the patient's commitment to therapy.

酒渣鼻是一种慢性复发的炎症性皮肤病,在北欧血统的白皙皮肤的成年人中发病率很高。症状以不同的组合和严重程度出现,通常在恶化和缓解期间波动。根据形态学特征,酒渣鼻一般分为四个主要亚型:毛细血管扩张型红斑型、丘疹型、肿型和眼型。多种环境和内源性因素已被证明可刺激增强的先天免疫反应和神经血管失调;然而,酒渣鼻的确切发病机制尚不清楚。以证据为基础的方法在描述许多现有治疗方法之间的差异是必不可少的。由于酒渣鼻表现多样,治疗方法必须根据疾病严重程度、生活质量影响、合并症、触发因素和患者对治疗的承诺进行个体化。
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引用次数: 129
Effect of glycation focusing on the process of epidermal lipid synthesis in a reconstructed skin model and membrane fluidity of stratum corneum lipids. 糖基化对重建皮肤模型中表皮脂质合成过程和角质层脂质膜流动性的影响。
Pub Date : 2017-10-04 eCollection Date: 2017-01-01 DOI: 10.1080/19381980.2017.1338992
Mami Yokota, Hitoshi Masaki, Yuri Okano, Yoshihiro Tokudome

We previously reported that epidermal glycation causes an increase in saturated fatty acid (FA) content in a differentiated reconstructed skin model and HaCaT cells. However, the relationship between ceramides (CERs) and glycation and their effects on stratum corneum (SC) barrier function was not elucidated. In this study, we investigated the effect of glycation on lipid content in 6-day-old cultured reconstructed skin. We used the EPISKIN RHE 6D model and induced glycation using glyoxal. In addition to transepidermal water loss, content of CERs, cholesterol and FA in the reconstructed epidermal model were analyzed by high performance thin layer chromatography. Expression of genes related to ceramide metabolism was determined by real time RT-PCR. Membrane fluidity of stratum corneum lipid liposomes (SCLL) that mimic glycated epidermis was analyzed using an electron spin resonance technique. It was found that FA was significantly increased by glycation. CER[NS], [AP], and cholesterol were decreased in glycated epidermis. Expression of ceramide synthase 3 (CERS3) was significantly decreased while fatty acid elongase 3 was increased by glyoxal in a dose dependent manner. Membrane fluidity of SCLL mimicking the lipid composition of glycated epidermis was increased compared with controls. Therefore, disruption of CER and FA content in glycated epidermis may be regulated via CERS3 expression and contribute to abnormal membrane fluidity.

我们之前报道过表皮糖基化导致分化重建皮肤模型和HaCaT细胞中饱和脂肪酸(FA)含量增加。然而,神经酰胺(CERs)与糖基化之间的关系及其对角质层(SC)屏障功能的影响尚不清楚。在本研究中,我们研究了糖基化对6日龄培养重建皮肤脂质含量的影响。采用EPISKIN RHE 6D模型,乙二醛诱导糖基化。除经皮失水外,采用高效薄层色谱法分析重建表皮模型中cer、胆固醇和FA的含量。实时RT-PCR检测神经酰胺代谢相关基因的表达。采用电子自旋共振技术分析了模拟糖基化表皮的角质层脂质脂质体(SCLL)的膜流动性。发现糖基化显著增加FA。糖基化表皮的CER[NS]、[AP]和胆固醇均降低。乙二醛显著降低了神经酰胺合成酶3 (CERS3)的表达,而脂肪酸延长酶3的表达呈剂量依赖性。与对照组相比,模拟糖基化表皮脂质组成的scl膜流动性增加。因此,糖基化表皮中CER和FA含量的破坏可能通过CERS3的表达来调节,并导致膜流动性异常。
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引用次数: 10
Cleanser use could decrease numbers of Demodex Folliculorum in mild to moderate acne patients. 使用洁面乳可减少轻度至中度痤疮患者的毛囊蠕形螨数量。
Pub Date : 2017-10-04 eCollection Date: 2017-01-01 DOI: 10.1080/19381980.2017.1348444
Chao Yuan, Shu-Li Zheng, Ya Feng Ma, Juliandri Philippe, Humbert Philippe

Objective: This study was to verify if the skin cleanser could help decrease the infection ratio of Demodex Folliculorum in acne patients. Methods: 132 participants with mild to moderate vulgaris acne participated in this monocentric, prospective, double-blind study. Dermatologists grading and Standardized Skin Surface Biopsy were performed in baseline and after using cleanser only 7 d later. Results: There was no significant difference between the 2 times for each type of acne, but the number of Demodex Folliculorum was significantly decreased compared with baseline. There was no relationship between the number of Demodex Folliculorum and the total number of acne lesions. Limitations: Short follow-up time in 7 d. Conclusion: Using the cleanser could decrease the average number of Demodex Folliculorum in only 7 d in mild to moderate acne patients. There is no relationship between Demodex and acne lesions number.

目的:验证洁面乳是否能降低痤疮患者毛囊蠕形螨的感染率。方法:132名轻度至中度寻常性痤疮患者参与了这项单中心、前瞻性、双盲研究。皮肤科医生在基线和使用洗面奶后仅7 d进行评分和标准化皮肤表面活检。结果:各类型痤疮2次比较差异无统计学意义,但毛囊蠕形螨数量较基线明显减少。毛囊蠕形螨数量与痤疮病灶总数无明显关系。局限性:随访时间短,7 d。结论:轻、中度痤疮患者使用本洁面乳仅7 d即可减少毛囊蠕形螨的平均数量。蠕形螨与痤疮皮损数无相关性。
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引用次数: 8
RIS-1/psoriasin expression in epithelial skin cells indicates their selective role in innate immunity and in inflammatory skin diseases including acne. RIS-1/牛皮癣蛋白在皮肤上皮细胞中的表达表明其在先天免疫和包括痤疮在内的炎症性皮肤病中的选择性作用。
Pub Date : 2017-10-04 eCollection Date: 2017-01-01 DOI: 10.1080/19381980.2017.1338993
Christos C Zouboulis, Claudia Beutler, Hans F Merk, Jens M Baron

Objective: RIS-1/psoriasin/S100A7 is an epithelial antimicrobial peptide, whose expression is upregulated in inflammatory skin diseases and is induced by retinoids. Its molecular expression was investigated in skin cell cultures and in skin specimens to better understand its role in inflammatory procedures of the pilosebaceous unit.

Methods: rtPCR and northern blotting of RIS-1/psoriasin and the retinoid-metabolizing genes CYP26AI and CRABP-II were performed in cells cultures (keratinocytes, sebocytes, fibroblasts, endothelial cells, melanocytes, lymphocytes and prostate cells; native and treated with retinoids) and in situ hybridization in normal and inflamed skin (acne, psoriasis).

Results: a) RIS-1/psoriasin is expressed in keratinocytes and fibroblasts in vitro and in keratinocytes of the stratum granulosum in vivo. Retinoids in vitro and inflammatory conditions in vivo increase the levels of RIS-1/psoriasin in keratinocytes (both), sebocytes (inflammation only) and fibroblasts (retinoids). Sebocytes and fibroblasts are the metabolically most active skin cells, since they can upregulate the expression of CRABP-II and CYP26AI, genes responsible for retinoid metabolism. Inflammation modifies the compartmentation of RIS-1/psoriasin in sebaceous glands and the follicular root sheaths.

Conclusion: The present data indicate that anti-inflammatory treatment targeting the epithelial compartments of the skin, including such with antibacterial peptides, may be promising for inflammatory skin diseases.

目的:RIS-1/psoriasin/S100A7是一种上皮抗菌肽,在炎症性皮肤病中表达上调,受类维生素a诱导。在皮肤细胞培养和皮肤标本中研究了其分子表达,以更好地了解其在毛囊皮脂腺单位炎症过程中的作用。方法:在细胞培养(角质形成细胞、皮脂细胞、成纤维细胞、内皮细胞、黑素细胞、淋巴细胞和前列腺细胞)中进行RIS-1/牛皮癣蛋白和类维甲酸代谢基因CYP26AI、CRABP-II的rt - pcr和northern blotting;在正常和发炎的皮肤(痤疮,牛皮癣)进行原位杂交。结果:a) RIS-1/牛皮癣蛋白在体外角质形成细胞和成纤维细胞中表达,在体内颗粒层角质形成细胞中表达。体外的类维甲酸和体内的炎症条件会增加角质形成细胞(两者)、皮脂细胞(仅炎症)和成纤维细胞(类维甲酸)中RIS-1/牛皮癣蛋白的水平。皮脂细胞和成纤维细胞是代谢最活跃的皮肤细胞,因为它们可以上调负责类视黄醇代谢的基因CRABP-II和CYP26AI的表达。炎症改变了皮脂腺和毛囊根鞘中RIS-1/银屑病蛋白的区隔。结论:目前的数据表明,针对皮肤上皮区室的抗炎治疗,包括抗菌肽,可能是治疗炎症性皮肤病的有希望的方法。
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引用次数: 4
Modulation of Toll Like Receptor-2 on sebaceous gland by the treatment of adult female acne. 通过治疗成年女性痤疮调节皮脂腺上的 Toll 样受体-2。
Pub Date : 2017-10-04 eCollection Date: 2017-01-01 DOI: 10.1080/19381980.2017.1361570
Marco A D Rocha, Lilia R S Guadanhim, Adriana Sanudo, Edileia Bagatin

Adult female acne is a chronic inflammatory, immune-mediated disease that affects the pilosebaceous unit in women in their 20s to 40s, and is considered different from acne vulgaris. Propionibacterium acnes is recognized by TLR-2, resulting in activation of this receptor and an inflammatory response through the NFκ B pathway. This therapeutic, interventional, open, randomized, evaluator-blinded and comparative trial included 38 adult women with moderate facial acne and 10 age-matched controls, all aged between 26 and 44 years. Two treatments were performed over six months: 15% azelaic acid gel (AA) bid (n = 18) and oral contraceptive (COC) drospirenone 3 mg/ethinylestradiol .02 mg (n = 20). Biopsies were taken at baseline (control, lesion, perilesional) and at the conclusion (lesion and perilesional) of the study to evaluate TLR-2 expression by immunohistochemistry. Lesion count and blind photographic evaluation were used for efficacy. The groups were homogeneous: 70% of lesions were located in the submandibular area, 95% of participants had inflammatory lesions; of these, 50% had persistent and 50% had late-onset acne. The mean ages were 33.7 ± 5.5 and 33.1 ± 5.3 years (COC and AA group, respectively). A moderate clinical improvement was observed in both groups. No difference in TLR-2 expression in the lesion or perilesional areas was observed; however, reduced TLR-2 expression was seen in the control group. A significant reduction in expression was observed after both treatments, with no difference between the groups. This finding suggests an anti-inflammatory effect of COCs and AA in adult female acne, via modulation of the TLR-2 receptor.

成年女性痤疮是一种慢性炎症性、免疫介导的疾病,影响 20 至 40 岁女性的皮脂腺单位,被认为不同于寻常痤疮。痤疮丙酸杆菌被 TLR-2 识别,导致该受体活化,并通过 NFκ B 途径产生炎症反应。这项治疗性、介入性、开放式、随机、评估者盲法和比较试验包括 38 名患有中度面部痤疮的成年女性和 10 名年龄匹配的对照组,她们的年龄都在 26 至 44 岁之间。试验采用两种治疗方法,为期六个月:15%壬二酸凝胶(AA)(18 人)和口服避孕药(COC)屈螺酮 3 毫克/炔雌醇 0.02 毫克(20 人)。在基线(对照组、病变组、周围组)和研究结束时(病变组和周围组)取活组织切片,通过免疫组织化学方法评估 TLR-2 的表达。皮损计数和盲法摄影评估用于评价疗效。两组患者具有同质性:70%的皮损位于颌下区域,95%的参与者有炎症性皮损;其中,50%为持续性痤疮,50%为晚发性痤疮。平均年龄分别为 33.7±5.5 岁和 33.1±5.3 岁(COC 组和 AA 组)。两组患者的临床症状均有适度改善。皮损区或周围区域的 TLR-2 表达未见差异;但对照组的 TLR-2 表达有所降低。在两种治疗方法之后,观察到TLR-2的表达明显减少,组间无差异。这一发现表明,COCs 和 AA 可通过调节 TLR-2 受体对成年女性痤疮产生抗炎作用。
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引用次数: 0
Special types of folliculitis which should be differentiated from acne. 特殊类型的毛囊炎应与痤疮鉴别。
Pub Date : 2017-09-27 eCollection Date: 2017-01-01 DOI: 10.1080/19381980.2017.1356519
Kai-Lv Sun, Jian-Min Chang

Because both acne vulgaris and folliculitis can present as inflammatory erythematous papules, pustules or nodules, they are often hard to distinguish. The importance to distinguish between these 2 shall be stressed as their pathogenesis and therapies are different and misdiagnosis or missed diagnosis may lead to improper treatment. We will introduce several special types of folliculitis that should be differentiated from acne to increase our knowledge of the disorders with an acne-like manifestation.

因为寻常性痤疮和毛囊炎都可以表现为炎性红斑丘疹、脓疱或结节,它们通常很难区分。两者的发病机制和治疗方法不同,误诊或漏诊可能导致治疗不当,需要强调区分两者的重要性。我们将介绍几种特殊类型的毛囊炎,应该与痤疮区分开来,以增加我们对痤疮样表现的疾病的认识。
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引用次数: 18
Higher prevalence of clinical cardiovascular comorbidities in postmenopausal women with self-reported premenopausal hirsutism and/or oligo-amenorrhea. 绝经后自我报告绝经前多毛和/或少闭经的妇女临床心血管合并症的患病率较高。
Pub Date : 2017-08-22 eCollection Date: 2017-01-01 DOI: 10.1080/19381980.2017.1356517
F V Comim, C S Wippel, R M Copês, F W Langer, J M Carvalho, R N Moresco, M O Premaor

Hirsutism is a common condition, being present in about 5-15% of women. It is characterized by the growth of terminal hair in a pattern typical for men, like as hair growth in upper lip, chin, cheek and lower and upper abdomen. Not infrequently, hirsutism is followed by other signs of hyerandrogenism such as alopecia, acne, and seborrhea. The current study evaluated the association between a self-reported history of hirsutism and oligo-amenorrhea during reproductive age and the presence of several comorbidities in women after menopause. A total of 1057 women were investigated in a cross-sectional study, and information on the age at menarche, menstrual history, complaints about excessive hair growth, and disease development was obtained. Participants from the study were postmenopausal women aged >55 y who attended ac primary care service at least once during the 24-month period. Exclusion criteria included the presence of cognitive impairment and/or communication difficulties. Main outcomes were the presence of comorbidities after menopause. The prevalence of comorbidities was significantly higher in women with a history of hirsutism and/or oligo-amenorrhea [OR = 1.6 (95% CI 1.1-2.4), p = 0.002] or isolated hirsutism [OR 2.0 (95% CI 1.3-3.2), p = 0.004]. The prevalence of stroke, angina or myocardial infarction, cardiac failure, chronic obstructive pulmonary disease, and osteoarthritis were significantly higher in postmenopausal women who had experienced hirsutism and/or oligomenorrhea (p < 0.03). Limitations of the study came from the absence of a clear differentiation between hirsutism and hypertrichosis. According our results, the presence of hirsutism and oligo-amenorrhea during the female reproductive period may indicate susceptibility to important diseases at old age.

多毛症是一种常见的疾病,约占女性的5-15%。它的特点是末端毛发以典型的男性模式生长,就像上唇、下巴、脸颊和上下腹部的毛发生长一样。通常情况下,多毛症之后会出现其他雄激素分泌亢进的症状,如脱发、痤疮和脂溢症。目前的研究评估了自我报告的育龄期多毛和少闭经史与绝经后妇女存在的几种合并症之间的关系。在一项横断面研究中,共调查了1057名妇女,并获得了月经初潮年龄、月经史、对毛发过度生长的抱怨和疾病发展的信息。该研究的参与者是年龄>55岁的绝经后妇女,她们在24个月内至少接受过一次初级保健服务。排除标准包括存在认知障碍和/或沟通困难。主要结局是绝经后合并症的存在。有多毛和/或少闭经病史的女性合并症的患病率明显更高[or = 1.6 (95% CI 1.1-2.4), p = 0.002]或孤立性多毛[or 2.0 (95% CI 1.3-3.2), p = 0.004]。中风、心绞痛或心肌梗死、心力衰竭、慢性阻塞性肺疾病和骨关节炎的患病率在绝经后有多毛和/或少月经的妇女中明显更高(p < 0.03)。该研究的局限性在于没有明确区分多毛症和多毛症。根据我们的研究结果,女性在生育期间出现多毛和少闭经可能表明老年时对重要疾病的易感性。
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引用次数: 4
Evaluation of vitamin D3 intakes up to 15,000 international units/day and serum 25-hydroxyvitamin D concentrations up to 300 nmol/L on calcium metabolism in a community setting. 评估维生素D3摄入量高达15,000国际单位/天和血清25-羟基维生素D浓度高达300 nmol/L对社区钙代谢的影响
Pub Date : 2017-04-13 eCollection Date: 2017-01-01 DOI: 10.1080/19381980.2017.1300213
S M Kimball, N Mirhosseini, M F Holick

Supplementation by the general public with vitamin D at doses above the Tolerable Upper Level of Intake (UL) is becoming quite common. The objective of the current analysis was to characterize the effect of vitamin D supplementation at doses up to 15,000 IU/d in a community-based program on vitamin D status, calcium homeostasis as well as on kidney, liver and immune function. We evaluated data collected for 3,882 participants in a community program for whom there were blood measurements at program entry and at follow-up within 6-18 months between 2013 and 2015. Participants were supplemented with a wide range of vitamin D doses (1,000 - 15,000 IU/d) aimed at achieving serum 25-hydroxyvitamin D [25(OH)D] levels of at least 100 nmol/L. Serum 25(OH)D concentrations up to 300 nmol/L were achieved without perturbation of calcium homeostasis or incidence of toxicity. Hypercalcemia and hypercalciuria were not related to an increase in 25(OH)D concentrations nor vitamin D dose. To achieve serum 25(OH)D levels >100 nmol/L on average, required vitamin D intakes of 6,000 IU/d for normal Body Mass Index (BMI), 7,000 IU/d for overweight and 8,000 IU/d for obese. Doses of vitamin D in excess of 6,000 IU/d were required to achieve serum 25(OH)D concentrations above 100 nmol/L, especially in individuals who were overweight or obese without any evidence of toxicity. Serum 25(OH)D concentrations up to 300 nmol/L were found to be safe.

普通公众补充维生素D的剂量超过可耐受的最高摄入量(UL)已经变得相当普遍。当前分析的目的是描述在一个社区项目中,以高达15,000 IU/ D的剂量补充维生素D对维生素D状态、钙稳态以及肾、肝和免疫功能的影响。我们评估了一个社区项目中3,882名参与者收集的数据,这些参与者在项目开始时和2013年至2015年6-18个月内的随访期间进行了血液测量。参与者补充了大范围的维生素D剂量(1,000 - 15,000 IU/ D),旨在使血清25-羟基维生素D [25(OH)D]水平至少达到100 nmol/L。血清25(OH)D浓度可达300 nmol/L,且不影响钙稳态或发生毒性。高钙血症和高钙尿症与25(OH)D浓度和维生素D剂量的增加无关。为了使血清25(OH)D水平平均>100 nmol/L,正常体重指数(BMI)需要摄入6000 IU/ D,超重需要摄入7000 IU/ D,肥胖需要摄入8000 IU/ D。要使血清25(OH)D浓度超过100 nmol/L,需要服用超过6000 IU/ D的维生素D剂量,特别是对于超重或肥胖且没有任何毒性证据的个体。血清25(OH)D浓度高达300 nmol/L是安全的。
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引用次数: 48
Early diagnosis in familial glucocorticoid deficiency. 家族性糖皮质激素缺乏的早期诊断。
Pub Date : 2017-04-06 eCollection Date: 2017-01-01 DOI: 10.1080/19381980.2017.1310787
Fatima Al Jneibi, Tawfiq Hen, Jaishen Rajah, Rajendran Nair

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive condition, characterized by marked atrophy of zona fasiculata and reticalaris with preservation of zona glomerulosa. Out of more than 50 published cases, 18 patients died as a result of glucocorticoid insufficiency. The main objective of this report is to emphasize the early diagnosis and treatment in our 17 month-old patient. Her presenting features following an upper respiratory tract infection were hypoglycemia, seizures as well as deep hyperpigmentation of the limbs and lips. A low cortisol concentration, elevated ACTH level and normal electrolytes and aldosterone level all supported the diagnosis of primary glucocorticoid deficiency. Parents were counseled about the diagnosis, management and the lifelong requirement of steroids. FGD is an easily treatable disease when recognized but frequently missed due to a non-specific presentation. FGD is a treatable disease, delayed diagnosis and treatment can lead to significant morbidity.

家族性糖皮质激素缺乏症(FGD)是一种罕见的常染色体隐性遗传病,其特征是束状带和网状带明显萎缩,肾小球带保留。在50多例已发表的病例中,有18例患者死于糖皮质激素不足。本报告的主要目的是强调我们17个月大的患者的早期诊断和治疗。上呼吸道感染后的表现为低血糖、癫痫发作以及四肢和嘴唇色素沉着。低皮质醇浓度、ACTH水平升高、电解质和醛固酮水平正常均支持原发性糖皮质激素缺乏的诊断。父母被告知有关类固醇的诊断,管理和终身需求。烟气脱硫是一种容易治疗的疾病,当发现,但经常错过由于非特异性表现。烟气脱硫是一种可治疗的疾病,但延误诊断和治疗可导致严重的发病率。
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引用次数: 5
期刊
Dermato-Endocrinology
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