Ehlers-Danlos综合征1例

 报告1例Ehlers-Danlos综合征。患者女,31岁。因“全身皮肤弹性过大30余年”就诊。皮肤科情况：皮肤外观正常,全身皮肤弹性过度,触之柔软如天鹅绒,四肢、手足关节可过度拉伸。临床诊断：Ehlers-Danlos综合征。     

皮肤弹性过度

报告1例皮肤弹性过度。患儿男,16岁。全身皮肤脆性增加,弹性过度,关节伸展过度14年。皮损组织病理检查示真皮组织变薄,胶原纤维疏松。弹性纤维染色示真皮上、中部弹性纤维数量增加。诊断:皮肤弹性过度。     

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。     

皮肤弹性过度1例

患儿男,5岁。皮肤弹性过度,脆性增加,关节伸展过度4年。皮损组织病理示真皮胶原纤维疏松、紊乱。弹性纤维染色示真皮上、中部弹性纤维数量增加。诊断:皮肤弹性过度。     

毛囊周围弹性组织溶解一例

患者，男，29岁。胸背部、双上肢白色丘疹7年。组织病理示：表皮大致正常，真皮浅层血管周围少许单一核细胞。弹力纤维染色：毛囊周围弹力纤维消失。符合毛囊周围弹性组织溶解。     

Ehlers-Danlos综合征一例

Ehlers－Danlos综合征亦名弹力过度性皮肤,是以皮肤牵张和弹力过度、皮肤与血管脆性增加、关节活动过度为特征的异质性遗传性结缔组织异常性疾病。患儿男,８岁。出生时正常,２岁起出现摔倒或嘻闹时易碰破四肢皮肤,伤口愈合延迟,并遗留萎缩性瘢痕。生长发育无异常,学习成绩良好。家族中无类似病史。体检：眼距较宽伴内眦赘皮,眼睑皮肤及眼球无异常。舌过度伸展,但不能触及鼻尖（Gorlin征可疑阳性）。皮肤科检查：①皮肤牵张和弹力过度,耳后、颈、前臂、腰部皮肤可拉至３cm左右,松手后迅速复原;②皮肤柔软,无天鹅绒样外观及淤斑…     

真皮中层弹性组织溶解症1例

患者女,36岁。躯干、四肢皮肤浅色扁平丘疹20年。皮损发展缓慢,无明显症状。皮肤科情况:躯干、四肢皮肤出现大小不一的浅色扁平丘疹,其走向与皮纹方向一致,并伴有双上臂后侧出现以毛囊为中心的针帽大丘疹。部分皮疹融合成斑块。扁平皮疹处组织病理检查:表皮萎缩变薄;真皮胶原纤维变细,排列疏松。阿新兰染色:真皮未见明显黏蛋白沉积。弹力纤维染色:真皮中部可见弹力纤维明显减少或消失。诊断:真皮中层弹性组织溶解症。     

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。     

眼睑松弛症伴耳垂损害1例

报告眼睑松弛症伴耳垂损害1例。患儿男,9岁。双上眼睑皮肤松弛、下垂4年,累及耳垂3年。组织病理显示弹性纤维明显减少、断裂;弹力纤维染色示弹力纤维溶解甚至消失。诊断为眼睑松弛症。     

弹力纤维假黄瘤一例

患者男,57岁。颈部密集淡黄色小丘疹8年。组织病理示扭曲、断裂的嗜红纤维。弹力纤维染色可见变性弹性纤维。诊断：弹力纤维假黄瘤。     

Hyperelasticity syndromes

A review of hyperelasticity syndromes is included. Ehlers-Danlos syndrome, pseudoxanthoma elasticum, cutis laxa and Marfan's syndrome are discussed.     

Defects in the biochemistry of collagen in diseases of connective tissue.

The collagens are the major structural glycoproteins of connective tissues. A unique primary structure and a multiplicity of post-translational modification reactions are required for normal fibrillogenesis. The post-translational modifications include hydroxylation of prolyl and lysyl residues, glycosylation, folding of the molecule into triple-helical conformation, proteolytic conversion of precursor procollagen to collagen, and oxidative deamination of certain lysyl and hydroxylysyl residues. Any defect in the normal mechanisms responsible for the synthesis and secretion of collagen molecules or the deposition of these molecules into extracellular fibers could result in abnormal fibrillogenesis; such defects could result in a connective tissue disease. Recently, defects in the regulation of the types of collagen synthesized and in the enzymes involved in the post-translational modifications have been found in heritable diseases of connective tissue. Thus far, the primary heritable disorders of collagen metabolism in man include lysyl hydroxylase deficiency in Ehlers-Danlos syndrome type VI, p-collagen peptidase deficency in Ehlers-Danlos syndrome type VII, decreased synthesis of type III collagen in Ehlers-Danlos syndrome type IV, lysyl oxidase deficency in S-linked cutis laxa and Ehlers-Danlos syndrome type V, and decreased synthesis of type I collagen in osteogenesis imperfecta.     

Hypotrichosis congenita hereditaria Marie Unna with Ehlers-Danlos syndrome and atopy

A family suffering from hypotrichosis congenita hereditaria Marie Unna is reported (16 members affected in five generations). The typical symptoms of this autosomal dominant syndrome were found: pili torti, canaliculi et trianguli, inborn generalized hypotrichosis, later on resulting in alopecia of the androgenetic type. A 19-year-old female patient with hyperandrogenemia was treated with cyproterone acetate and ethinyl estradiol. Furthermore, hypotrichosis was associated with Ehlers-Danlos syndrome and atopic symptoms in the last three generations of the family. There does not seem to be any genetic connection between the syndromes however.     

A case of Ehlers-Danlos syndrome occurring with Marfan's syndrome

The Ehlers-Danlos syndrome and the Marfan syndrome are well recognized inherited disorders of connective tissue. A case is reported of a young woman who showed the features of both Ehlers-Danlos and Marfan's syndrome; such a combination has previously been reported but is very rare.     

Vascular Ehlers-Danlos syndrome: a case with fatal outcome

A 13-year-old boy, born prematurely and hypotonic, from non-consanguineous healthy parents, was referred to our department because of easy bruising. A slightly extensible, thin and translucent skin, associated with dysmorphic facies, acrogeria, multiple ecchymoses, hypermobility of the small joints, dorsal kyphosis, genu valgum, flat feet, elongated upper limbs, and low muscle tone were all evident. A history of learning disability and bilateral inguinal hernia was present. Blood and imaging studies were unremarkable. A skin biopsy disclosed an unremarkable dermis; electron microscopy showed abnormalities in the diameter, contour, and shape of collagen fibrils/fibers. Genetic analysis revealed heterozygosity for a novel mutation in COL3A1 gene (c.3527G>A), confirming the diagnosis of vascular Ehlers-Danlos syndrome (VEDS). The patient died at 15 years of age because of aortic dissection. Vascular Ehlers-Danlos syndrome is a rare, life-threatening, autosomal dominant variant of EDS, resulting from mutations in COL3A1 gene. Affected individuals are prone to serious and potentially fatal complications, especially vascular, intestinal, and uterine ruptures. Delay in diagnosis is common, even when the clinical presentation is typical. Therefore, dermatologists should be familiar with VEDS features because the skin findings may be the first signs. Early diagnosis will improve management of visceral complications and allow early genetic counseling.     

Electron microscopic and immunohistological studies of a case of Ehlers-Danlos syndrome type IV

A 5-year-old male considered clinically to have Ehlers-Danlos syndrome (EDS) type IV with main symptoms of fragility and easy bruisability of the skin was presented. Electron microscopic observations of collagen fibers and immunohistological examination of the localization of the type III collagen in the patient revealed dissimilarities in the size and the irregularities in the shape of collagen filaments, as well as a clear difference in localization of type III collagen when compared with normal skin of same age.     

Collagen Fibril Arabesques in Connective Tissue Disorders

Background: In various connective tissue disorders, collagen fibrils and elastic fibers may exhibit some ultrastructural abnormalities. Objective: This electron microscopy study focused on collagen fibril orientation and unusual shapes in the dermis of Ehlers-Danlos syndrome (EDS) and related entities, including spontaneous cervical artery dissection syndrome and recurrent preterm premature rupture of fetal membranes syndrome. Results: In addition to some abnormal fibril shapes typically found in these syndromes, other conformations (hook shaped, S shaped, ring shaped) that have not been illustrated previously in the literature were observed. Conclusion: The abnormal collagen fibril conformations observed in EDS and other related conditions characterized by tissue fragility likely affect both the internal cohesiveness of the bundles and the mechanobiologic properties of the tissue.     

Clinical features and an ultrastructural study of Ehlers-Danlos Syndrome type II

Histopathological and ultrastructural studies were carried out on a case of a 4-year-old boy with type II Ehlers-Danlos Syndrome. The patient showed velvety skin, hyperelasticity of the skin, and mild hypermobility of the joints. Histopathologically, numerous very fine collagen fibers were observed in the dermis, and no recognisable group substance was found. Ultrastructurally, abnormal collagen fibrils with irregular profiles were interspersed in the reticular dermis. However, their periodic band pattern was that of normal skin collagen. It is supposed that these abnormalities of fibrils are due to abnormalities of collagen fibrillogenesis.     

Growth kinetics of fibroblasts from a patient with Ehlers-Danlos syndrome

A 6-year-old girl with Ehlers-Danlos syndrome (type I) who shows hyperelastic skin, hypermobile joints and delayed wound healing is reported. The growth kinetics of fibroblasts derived from her skin was examined using 3H-thymidine autoradiography. Our study showed that these fibroblasts had poor proliferative activity, compared with normal age-matched fibroblasts. Thus, we could suggest that the pathogenesis of Ehlers-Danlos syndrome was partially attributed to the lack of proliferative activity of the fibroblasts.     

Case report and study of collagen metabolism in Ehlers-Danlos syndrome type II

A case report on a 41-year-old Japanese woman with prominent features of Ehlers-Danlos syndrome is presented. At birth, the patient was noted to have moderate hyperlastic skin and hypermobility of the joints, especially those of the hands and fingers. She bruised easily, formed purpura, and had cigarette paper scars. From the age of 38, she became aware of palpitation, dyspnea and easy fatigue on exertion; examination showed mitral insufficiency. Mitral-valve prolapse was revealed by echocardiogram and CT echogram. Upper G-I series of X-ray revealed duodenum diverticula. At the age of 42, she was operated for mitral valve replacement. From the clinical features she was dignosed as having Ehlers-Danlos syndrome type II. Tissue sections stained with H-E showed a few, fine, disorderly arranged collagen fibers. Electron microscopically, the diameter of individual collagen fibrils was rather more varied than that in normal skin, but the average diameter was within the normal range. In longitudinal sections, no apparent abnormal findings could be observed. Cultured dermal fibroblasts from the patient synthesized pro alpha 1 trimer of type I collagen but failed to secrete type III procollagen or pro alpha 2 chain of type I collagen. Affected cells were stained with antibodies against type I and type III collagen. Specific fluorescences against type I collagen were observed and very faint positive results against type III collagen were seen. These studies indicate that secreted altered type I procollagens that are synthesized can result in the clinical syndrome of our case.