获得性皮肤松弛症1例

患者女,25岁,口周皱纹3年,加重伴颈部皱纹1年半。皮损组织病理示:真皮浅层毛细血管周围稀疏淋巴细胞浸润;弹力纤维染色示真皮全层弹力纤维基本消失,局部见少数断裂的弹力纤维碎片。诊断:获得性皮肤松弛症。     

A Case of Cutis Pleonasmus

In 2005, Kreidstein first proposed the term "Cutis pleonasmus," a Greek term meaning "redundancy," which refers to the excessive skin that remains after massive weight loss. Cutis pleonasmus is clearly distinguishable from other diseases showing increased laxity of the skin, such as pseudoxanthoma elasticum, congenital and acquired generalized cutis laxa. Although individuals who are severely overweight are few and bariatric surgeries are less common in Korea than in the West, the number of these patients is increasing due to changes to Western life styles. We report a case for a 24-year-old man who presented with generalized lax and loose skin after massive weight loss. He was diagnosed with cutis pleonasmus based on the history of great weight loss, characteristic clinical features and normal histological findings. To the best of our knowledge, this is the first report of cutis pleonasmus in Korea.     

Pseudoxanthoma elasticum: report of two cases

Pseudoxanthoma elasticum is a rare inherited multisystem disorder that ischaracterized by a pathological mineralization of the elastic connective tissue,which involves predominantly the skin, eyes and cardiovascular system. Its cause lieson mutations in the ABCC6 gene, which lead to reduction or absence of thetransmembrane transport ADP dependent protein (MRP6), causing an accumulation ofextracellular material and subsequent deposition of calcium and other minerals in theelastic tissue. The authors report two cases of pseudoxanthoma elasticum, emphasizingits major clinical features and the importance of early diagnosis of the disorder,aiming for adequate therapeutic management of associated complications.     

Acquired cutis laxa secondary to Sweet syndrome in a child (Marshall syndrome): A rare case report

Sweet syndrome is rare in the pediatric population and usually responds well to treatment, resolving without sequelae. Marshall syndrome is a rare pediatric skin disease characterized by loss of elastic tissue (cutis laxa) secondary to acquired, localized neutrophilic dermatitis without any internal organ involvement. Only few cases of Marshall syndrome (acquired cutis laxa type II) have been reported. Systemic steroids and dapsone show excellent results in Sweet syndrome. Although there is no satisfactory treatment for cutis laxa, dapsone can be used in the acute phase for control of swelling.     

Idiopathische Elastolyse der mittleren Dermis

Zusammenfassung Die idiopathische Elastolyse der mittleren Dermis (idiopathic middermal elastolysis=IMDE) ist eine seltene Hauterkrankung mit zwei verschiedenen klinischen Erscheinungsformen, n?mlich einer gro?fl?chig-konfluierenden Form (Typ I) mit feingef?ltelten Effloreszenzen entlang den Hautspaltlinien und einer disseminiert-perifollikul?ren Form (Typ II) mit Protrusionen. Das histologische Bild mit Fehlen der elastischen Fasern in der mittleren Dermis ist charakteristisch. Betroffen sind überwiegend Frauen jüngeren bis mittleren Alters. Im deutschen Sprachraum hat dieses Krankheitsbild in der Literatur noch keine Erw?hnung gefunden. Wir beschreiben einen heute 60j?hrigen Patienten mit dem typischen Bild einer IMDE (Typ I). Das besondere Interesse dieser Kasuistik gilt der Tatsache, da? keine Lichtabh?ngigkeit zu verzeichnen ist, was sich auch dadurch gezeigt hat, da? unter einer PUVA-Therapie keine Verschlechterung eingetreten ist. Wahrscheinlich handelt es sich bei der IMDE um eine besondere Erkrankung aus dem Formenkreis elastolytischer Erkrankungen, bei der immunologische Mechanismen in der ?tiopathogenese diskutiert werden k?nnen. Eingegangen am 24. Februar 1994 Angenommen am 20. Juli 1994     

Livedoid vasculopathy as a marker of systemic disease: report of two cases

The livedoid vasculopathy is an obstructive vascular process of etiology not yetfully known, being possibly associated with several prothrombotic events. It isclinically characterized by the presence of painful and recurring purpuric lesions,which usually suffer ulceration and evolve with formation of white atrophic scarsusually located in the lower limbs. Two cases are here reported of painful ulceratedlesions on the lower limbs, in which the identification of VL enabled the diagnosisof systemic diseases.     

Penicillamine-induced Elastosis Perforans Serpiginosa and Cutis Laxa in a Patient with Wilson's Disease

Elastosis perforans serpiginosa (EPS) is a rare reactive perforating dermatosis that is characterized by the transepidermal elimination of abnormal elastic fibers. Penicillamine, which is one of the clear triggers for EPS, is a heavy metal chelator that is primarily used for disorders such as cystinuria and Wilson''s disease. It may cause alterations in the dermal elastic tissue such as pseudo-pseudoxanthoma elasticum, acquired cutis laxa, EPS and anetoderma. Herein we present a case of cutis laxa and EPS in a 34-year-old man who was previously on a long-term, high-dose of penicillamine for Wilson''s disease. The combination of EPS and cutis laxa induced by penicillamine has rarely been reported and we report the first such case in Korea.     

肉芽肿性皮肤松弛症六例临床及病理研究

目的 探讨6例肉芽肿性皮肤松弛症(GSS)的临床和病理特点.方法 收集6例GSS患者的临床和病理学资料.结果 6例均为男性,皮损为松弛斑块甚至垂悬状肿块,5例发生于皱褶部位(或为主),1例仅发生于右胸部.1例合并蕈样肉芽肿.组织病理均可见真皮内非干酪性肉芽肿,伴中等大小的淋巴样细胞、多核巨细胞浸润.1例见淋巴样细胞异形改变,余5例异形不明显.1例伴有亲表皮现象.免疫组化均见CD4+T细胞为主的单克隆增生.4例行弹性纤维染色见弹性纤维卷曲、断裂甚至消失,2例见多核巨细胞吞噬弹性纤维现象.2例行T细胞受体(TCR)基因重排,均为γ单克隆增生.2例患者采用浅层X线照射或电子束照射,皮损变小后手术切除,未再复发.其余4例患者采用干扰素α-2b肌内注射、0.02％氮芥外用等,症状有改善.结论 GSS进展缓慢,不推荐过度治疗.局限于皱褶部位的GSS推荐手术治疗.     

Fractional photothermolysis treatment of digital cutis laxa reverses hand disability

In this case study, we present a safe and novel treatment for a patient with soft tissue hand disability caused by severe and chronic lupus and cutis laxa (CL). This patient was a woman in her 50s with a 20‐year history of systemic lupus erythematous (SLE) and multiple sclerosis who developed hand disability because of the drastic loss of firmness in her soft tissue, extending from the dermis down to the ligaments. The likely cause was CL with SLE synovitis, exacerbated by corticosteroid tapering. Fractional photothermolysis (FP) LASER (Fraxel DUAL 1550/1927; Solta Medical) therapy profoundly alleviated her joint locking in addition to improving the firmness of the overlying skin to reverse her hand disability. This case illustrates a novel approach to CL hand treatment and the profound impact the treatment had on the patient's disabled hand. FP therapy is quick and safe, and its medical application to skin and joints should be further explored.     

Costello综合征合并皮肤松弛症一例基因突变检测

目的 报告1例并发皮肤松弛症的Costello综合征患者,并进行分子遗传学诊断.方法 收集1例合并有皮肤松弛症的Costello综合征患者临床资料,提取该患者皮肤组织和其父母及150例无关健康对照的外周血基因组DNA,对HRAS基因所有外显子和侧翼序列测序.结果 患儿女,13月龄,生长发育迟缓,重度营养不良,面容粗糙,四肢皮肤严重松弛,皮下脂肪减少甚至消失.患儿HRAS基因第2外显子出现突变c.34G＞ T(p.Gly 12Cys),但其父母及健康对照均未检测到该位点突变.结论 HRAS基因第2外显子c.34G＞ T(p.Gly12Cys)突变可能为该例Costello综合征的致病原因.     

Multiple whitish papules on the posterior neck of an elderly woman

White fibrous papulosis of the neck is a rare entity, with fewer than 50 cases described. It is a benign pathology whose main interest lies in its broad differential diagnosis, especially with pseudoxanthoma elasticum. The authors report the case of a 77-year-old woman with multiple yellow-white monomorphic papules on the posterior cervical region, with years of evolution. Cutaneous biopsy revealed a nodular area in the superficial and middle reticular dermis, with slight thickening of the collagen fibers and focally enlarged elastic fibers, aspects highlighted in the Verhoeff staining that additionally showed absence of elastic fibers in the papillary dermis.     

Infliximab for the treatment of recalcitrant bullous Sweet syndrome in a 10-year-old girl

We report the case of a 10-year-old girl with bullous Sweet syndrome, recalcitrant to high-dose systemic corticosteroids. Subsequent treatment with infliximab resulted in a rapid improvement in cutaneous lesions and systemic symptoms. Cutis laxa was noted in the healed skin. We propose early second-line treatment with infliximab in children with steroid-refractory Sweet syndrome.     

弹性纤维与皮肤衰老

成熟的弹性纤维主要由弹性蛋白、原纤维蛋白微纤维及与弹性纤维有关的蛋白组成。内源性老化的皮肤弹性和柔韧度降低,弹性纤维网断裂和衰退。光老化皮肤不仅是富含原纤维蛋白的微纤维在表皮真皮交界处丢失,弹性蛋白变性,更重要的是在真皮深层混乱的弹性纤维蛋白物质的沉积,弹性蛋白的功能也受到影响。弹性纤维的修复可归纳为促进组成蛋白表达、改善组装条件、减少破坏因素3方面。     

丘疹性弹性纤维离解22例临床病理分析

【摘要】 目的 分析丘疹性弹性纤维离解的临床及病理学特点。方法 回顾2006年 9月至 2018年 5月在中国医学科学院皮肤病医院确诊的22例丘疹性弹性纤维离解患者的临床、病理学表现及随访情况。结果 22例患者平均发病年龄5.7岁（1～10岁）,男女比例4.5∶1,发病至确诊时间平均1.5年,无明确病因。患者皮损均无痒痛等症状,均表现为白色丘疹,直径1 ~ 10 mm,圆形、椭圆形或多角形,轻度隆起,质软,境界清晰,推挤丘疹两侧正常皮肤后丘疹表面可出现皱纹。16例（73%）皮损散在分布, 13例（59%）皮损数 < 5个;21例（95%）皮损位于躯干部位。8例皮损组织病理表现：真皮浅中层胶原纤维无明显增加,排列正常,但间隙轻度增宽;弹性纤维染色显示真皮浅中层局限性弹性纤维消失及离解。确诊后,22例均未使用任何药物治疗,其中18例自起病后皮损未继续扩大,也未出现新发皮损;4例皮损轻度扩大,但后期停止进展;16例患者出现部分缓解。结论 丘疹性弹性纤维离解是一种好发于儿童青少年的罕见弹性纤维性皮肤病,诊断需临床结合病理,无需特殊治疗,预后良好。     

光线性弹性组织变性及其机制

光线性弹性组织变性为皮肤光老化的一部分,在组织学上主要表现为弹性纤维结构和功能的异常.目前,其机制尚不完全清楚,其中,紫外线起着重要的作用.其可通过影响基质金属蛋白酶、弹性蛋白酶、簇连蛋白等多种酶和蛋白的表达,导致弹性蛋白和微原纤维等弹性纤维成分发生改变,并促使光线性弹性组织变性的形成和发展.此外,非酶糖化反应、红外线及热休克反应在光线性弹性组织变性中也发挥一定的作用.     

Musculoskeletal and cutaneous sarcoidosis: exuberant case report

Sarcoidosis is a multisystem granulomatous disease of unknown cause. The osteoarticular involvement in sarcoidosis is rare and is often associated with cutaneous and long-standing chronic multisystem disease. More common in black women, osseous sarcoidosis is difficult to diagnose, with an incidence of 3 to 13%. The most characteristic radiological clinical picture evidences rounded, well-defined cysts, with no periosteal reaction and without peripheral sclerosis. The small bones of hands and feet are the most frequently involved sites. This report aims to demonstrate a rare case of osteoarticular sarcoidosis with characteristic clinical presentation, and highlight the importance of detecting osteoarticular involvement in this pathology.