真皮弹力纤维疾病

20100578获得性弹性纤维减少性疾病(综述)/薛燕宁(中国医科院北京协和医学院皮研所),曾学思,孙建方∥国际皮肤性病学杂志.-2009,35(5).-315～317弹性纤维异常相关的疾病分为先天性和获得性两大类,其中获得性弹性纤维减少性疾病相对少见。综述这类疾病的临床和病理特点,其中包括:丘疹性弹性组织破裂、毛囊周围弹性组织溶解、颈部白色纤维性丘疹病、弹性假黄瘤样真皮乳头层弹性组织溶解症、炎症后弹性组织溶解和皮肤松弛、肢端角化性类弹性纤维病、斑状萎缩、真皮中部弹性组织溶解、获得性皮肤松弛症、肉芽肿性皮肤松弛症等。但是,目前这组疾病的病因及发病机制仍不明确,治疗也缺乏有效的手段。参11(樊靖     

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。     

获得性局限性皮肤松弛症一例

患者,女，24岁。面颈部皮肤逐渐松弛2年。皮肤科查体：面颈部、双上眼睑皮肤松弛下垂，呈早老外观。疲劳试验（-）。皮损组织病理学检查示真皮层弹性纤维减少，形态异常，呈扭曲状。诊断：获得性局限性皮肤松弛症。     

获得性弹性纤维减少性疾病

获得性弹性纤维减少性疾病包括一组相对少见的疾病,现已较为公认的包括斑状萎缩、获得性皮肤松弛症、肉芽肿性皮肤松弛症和肢端角化性类弹性纤维病,而近年来陆续报道的一些少见病还未被广泛认识,包括:丘疹性弹性组织破裂、毛囊周围弹性组织溶解、颈部白色纤维件丘疹病、弹性假黄瘤样真皮乳头层弹性组织溶解症、真皮中部弹性组织溶解.这些疾病临床和病理均有显著的特点.     

儿童弹性纤维性假黄瘤

报告1例幼儿期发病的弹性纤维性假黄瘤。患儿男,8岁。因发现腹部丘疹、斑块5年余,加重1年入院。否认家族遗传病史。体格检查:系统查体未见明显异常。皮肤科检查:双侧颈部、腋窝、胸腹部及腹股沟可见密集融合的黄色扁平丘疹及斑块,下腹部皮肤松弛。腹部B超示肾脏多发性钙化。上腹部皮损组织病理学检查:真皮中层弹性纤维嗜碱性变、断裂。诊断:弹性纤维性假黄瘤。     

肉芽肿性皮肤松弛症

报告1例肉芽肿性皮肤松弛症。患者女,46岁。双侧腹股沟红斑、条索状肿块伴疼痛1年。皮肤科检查:双侧腹股沟浸润性红斑,左侧腹股沟可触及4 cm×10 cm条索状质硬肿块,表面皮肤松弛。皮损组织病理检查:真皮内大量淋巴样细胞浸润,可见淋巴细胞亲表皮现象,真皮内可见散在多核巨细胞。免疫病理示淋巴样细胞CD2、CD5及CD4均阳性;多核巨细胞CD68/PGM-1阳性。弹性纤维染色可见部分区域弹性纤维减少。TCR-γ基因重排示克隆性扩增峰。诊断:肉芽肿性皮肤松弛症。     

肉芽肿性皮肤松弛症

报告1例肉芽肿性皮肤松弛症.患者男,58岁.因全身皮肤松弛,出现红斑、斑块,腋窝及腹股沟有巨大垂吊的皮肤肿块而就诊.皮损组织病理学改变为真皮全层弥漫淋巴样细胞浸润,可见巨大的多核细胞性肉芽肿,弹性纤维缺失.该文对肉芽肿性皮肤松弛症临床、组织病理、免疫组化和分子生物学进行了研究.     

Jadassohn-Pellizari型皮肤松弛症1例

患者女,28岁,腹部及背部疝囊样丘疹、斑块8年,加重3年余。皮肤科情况:皮损为大小不一卵圆形斑块,质软,中央可见凹陷,伴风团样斑块,触之有疝囊感。皮损组织病理示:角化过度,表皮萎缩,真皮浅层胶原轻度增粗红染,血管周围及胶原间少量淋巴组织细胞为主的浸润。弹力纤维染色可见真皮乳头层弹性纤维正常,真皮中层弹性组织消失。诊断:Jadassohn-Pellizari型皮肤松弛症。患者未予治疗。     

弹性纤维性假黄瘤1例

报道1例Ⅰ型弹性纤维性假黄瘤。女性患者，20岁。颈、腋窝、腹股沟部有线状排列的淡黄色扁平小丘疹，皮肤柔软、松驰，呈鸡皮样外观。眼底检查及荧光血管造影显示双眼底有血管样条纹。皮损组织病理检查显示真皮中下2／3处弹性纤维积聚、变性、肿胀、碎裂，有钙盐沉着。间苯二酚品红染色显示真皮内深蓝黑色弹性纤维增多、增粗、断裂，呈破毛线团状。     

获得性局限性皮肤松弛症

报告1例获得性局限性皮肤松他症。患者男,31岁。有臀部局部皮肤明显松弛、肤色加深2年,无任何自觉症状。皮损组织病理检查示弹性纤维明显减少,形态异常,有断裂。给予整形手术治疗。     

Acquired cutis laxa and myeloma: large vacuolated cells in the dermis

INTRODUCTION: Cutis laxa is a rare disorder characterized by loss of elastic tissue. Several organs are often involved such as the skin, lungs, heart, digestive system or genitourinary tract. It may be inherited or acquired, generalized or localized. Its pathogenesis is unclear. Association of acquired cutis laxa with myeloma or plasma cell dyscrasia is very rare. We report a case of acquired cutis laxa associated with a myeloma. CASE REPORT: A 59 year-old woman was admitted for skin hyperlaxity present for a number of years. Light microscopic examination of a skin sample revealed fragmented elastic fibers. Electron microscopic examination of the elastic network demonstrated numerous large vacuolated cells with the appearance of macrophages around abnormal elastic and collagen fibers of the reticular dermis. In addition, a stage-1 IgG lambda myeloma was detected. The patient was treated by thalidomide for one year. After this treatment, electron microscopy examination did not reveal any large vacuolated cells in the dermis, and elastic and collagen fibers were not modified and skin laxity seemed to be stabilized. DISCUSSION: Acquired cutis laxa may be associated with many systemic diseases or can appear after inflammatory skin diseases. Seven cases of generalized cutis laxa associated with myeloma and four cases associated with plasma cell dyscrasia have been reported in the literature. In our case, as in 2 previously described cases, large vacuolated cells resembling macrophages were seen in the dermis. They were thought to play a role in cutis laxa.     

Immunoglobulin A (IgA) deposits in lesional skin of a patient with blepharochalasis

Summary We describe a 21-year-old male patient with blepharochalasis, a form of localized acquired cutis laxa. He had a 13-year history of recurrent swelling attacks of the eyelids of unknown origin leading to periocular localized cutis laxa. Histology of lesional skin confirmed almost complete loss of elastic fibres in the reticular and papillary dermis. Immunofluorescence and immunoelectron microscopy studies showed abundant immunoglobulin A (IgA) deposits around the remaining elastic fibres. Control skin of the forearm was negative. These findings support the hypothesis that immunopathogenetic mechanisms may contribute to the elastolytic process of blepharochalasis.     

Acquired cutis laxa associated with multiple myeloma

Cutis laxa is an uncommon condition characterized by loose and redundant skin. Biopsy results are positive for a reduction in or an absence of elastic fibers in the dermis. Cutis laxa is acquired or congenital. The acquired form is either a generalized insidious form (type I) or a form associated with prior inflammation (type II). Cardiovascular, pulmonary, gastrointestinal, and urologic complications may occur. In the past, cutis laxa was associated with plasma cell dyscrasia. We report on a characteristic cause of cutis laxa to alert clinicians to this uncommon manifestation of multiple myeloma.     

Localized acquired cutis laxa associated with trachyonychia

Acquired cutis laxa is a rare disease of unknown cause, which affects elastin metabolism. Clinically, it is characterized by redundant skin and hyperelasticity, while the histological study shows a reduction in or absence of elastic fibers in the dermis. We present a case of localized acquired cutis laxa associated with trachyonychia.     

Generalized Cutis Laxa Associated with Heavy Chain Deposition Disease

BACKGROUND: Cutis laxa is a heterogeneous group of inherited and acquired disorders characterized clinically by loose skin and histologically by altered elastic tissue. Heavy chain deposition disease is a very rare monoclonal immunoglobulin disorder, distinct from multiple myeloma, in which there is production and deposition of defective immunoglobulin heavy chains without light chain deposition. OBJECTIVE: We describe a case of acquired cutis laxa associated with heavy chain deposition disease. RESULTS: A 50-year-old male presented with acute renal failure, IgG4 heavy chain deposition in the kidneys, and no evidence of multiple myeloma. Four years later, he developed generalized acquired cutis laxa, emphysema, and a peripheral polyneuropathy. On pathology, there was destruction of elastic fibers within the dermis. CONCLUSION: This case describes a previously unreported association between acquired cutis laxa and heavy chain deposition disease.     

Generalized acquired cutis laxa associated with coeliac disease: evidence of immunoglobulin A deposits on the dermal elastic fibres

Summary Acquired cutis laxa (ACL) is an uncommon elastolytic disorder of unknown aetiology. In rare instances. ACL has been reported in association with autoimmune diseases and dermal deposit of immunoglobulins, suggesting that destruction of elastic tissue may be immunologically mediated. We report a 35-year-old man with generalized acquired cutis laxa (GACL) associated with a persistent papular erythematous eruption that histopathologically showed some resemblance to dermatitis herpetiformis. A marked reduction and degeneration of dermal elastic fibres was noted in biopsies from loose-hanging skin. Direct immunofluorescence from non-inflammatory loose skin revealed granular immunoglobulin A (IgA) deposits at the basement membrane zone and fibrillar IgA deposits in the dermal papillae. IgA deposits were also observed on the elastic fibres of the reticular dermis. Electron microscopy of skin from the submammary fold revealed fragmented elastic fibres, partial absence of peripheral microfibrils and abundant neutrophils, some of which were degranulated and adjacent to elastic fibres. Immunoelectron microscopy of an erythematous papule revealed IgA deposits around dermal elastic fibres. Antigliadin, antireticulin and antiendomysium antibodies were present. Jejunal biopsies showed a gluten-sensitive enteropathy. A possible IgA-mediated immune mechanism for the development of GACL in our patient is suggested.     

Acquired localized cutis laxa confined to the face: case report and review of the literature

BACKGROUND: Cutis laxa is an uncommon entity characterized by laxity of the skin, which hangs in loose folds, producing the appearance of premature aging. It can be subdivided into congenital and acquired. This latter variant is rare and the skin involvement varies from generalized to localized. We report a case of a localized acquired cutis laxa confined to the face, without preceding inflammatory lesions or systemic compromise. Four similar cases have been reported to date. The etiology remains unknown and there is no definitive treatment. METHODS: A 27-year-old White woman came to our hospital with a wrinkled face, pendulous earlobes and drop eyelids. Changes began 5 years prior, and she appeared much older than her age. RESULTS: Histological analysis and ultrastructural examination of skin biopsy revealed reduction and fragmentation of elastic fibers, confirming the diagnosis of cutis laxa. No systemic involvement was diagnosed. The patient was submitted to plastic surgery for repair, with satisfactory results to date. CONCLUSIONS: Acquired localized cutis laxa confined to the face without preceding inflammatory lesions is extremely rare. The etiology remains unknown. Clinical features and histopathologic findings confirm the diagnosis. Surgical repair seems to be the only therapeutic choice, but the results are variable and temporary.     

Acquired Cutis Laxa Type II (Marshall Syndrome) in an 18-Month-Old Child: A Case Report

Abstract:  Cutis laxa is a rare disorder resulting from degradation and clumping of elastic fibers in dermis. Type II acquired cutis laxa, shows only cutaneous changes without any systemic involvement. We describe an infant with acquired cutis laxa type II following a generalized inflammatory dermatitis.     

Increased fibroblast elastase activity in acquired cutis laxa.

BACKGROUND: Acquired cutis laxa is a rare disease characterized by sagging skin, premature wrinkling and reduced skin elasticity. OBSERVATION: We report a 21-year-old woman, who presented with acquired cutis laxa on the face and the ear lobes. Urticarial papules had preceded for 6 years. There was no systemic involvement. Skin specimens were obtained from lax skin and urticarial papules, and from healthy controls. Histology showed only few perivascular lymphocytes in lax ear skin and a dense inflammatory infiltrate in urticarial skin. In both biopsies elastic fibres were decreased as demonstrated by computerized morphometric analyses. Elastase activities of fibroblasts in culture were evaluated. There was a 2- to 3-fold increase in elastase activity in urticarial skin fibroblasts, contrasting with a normal elastase activity in lax ear skin. CONCLUSION: Our findings suggest that the inflammatory cells could play a significant role in the destruction of elastic fibres.