Collagenoma

胶原瘤
  • 文章类型: Case Reports
    背景:胶原瘤是由真皮胶原组成的罕见结缔组织错构瘤。感染人类免疫缺陷病毒(HIV)的患者可能会出现与HIV相关的脂肪营养不良或脂肪瘤。HIV和胶原瘤之间没有已知的关联。
    方法:在这里,我们描述了一例接受ART治疗的HIV患者的孤立性胶原瘤。病变是7x4厘米的皮下结节,枕骨头皮上没有表皮变化。这个病灶被切除了,组织病理学显示厚而随机排列的胶原束,与胶原瘤一致.
    结论:该病例代表一例HIV患者中出现的孤立的胶原瘤。尚不清楚HIV或ART是否促成了这种胶原瘤的发展。胶原瘤的治疗包括手术切除和病灶内皮质类固醇。除了脂肪瘤或脂肪营养不良,对于表现为孤立的大型皮下硬结结节的患者,在鉴别诊断中保持胶原瘤很重要。
    BACKGROUND: Collagenomas are rare connective tissue hamartomas composed of dermal collagen. Patients infected with human immunodeficiency virus (HIV) can present with HIV-related lipodystrophy or lipomas. There are no known associations between HIV and collagenomas.
    METHODS: Here we describe a case of an isolated collagenoma in an HIV patient on ART. The lesion was a seven by four-centimeter subcutaneous nodule with no epidermal changes located on the occipital scalp. This lesion was excised, and histopathology showed thick and randomly arranged collagen bundles, consistent with a collagenoma.
    CONCLUSIONS: This case represents an isolated collagenoma presenting in a patient with HIV. It is unclear whether HIV or ART contributed to the development of this collagenoma. Treatment of collagenomas include surgical excision and intralesional corticosteroids. In addition to lipoma or lipodystrophy, it is important to keep collagenoma in the differential diagnosis in a patient presenting with an isolated large indurated subcutaneous nodule.
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  • 文章类型: Case Reports
    结缔组织痣是由真皮的一种或几种成分过量组成的错构瘤,如胶原蛋白,弹性蛋白,和蛋白聚糖。本报告介绍了一个14岁的女孩,其肤色丘疹和肤色结节单侧分布,呈皮瘤状。这些病变涉及多个节段。组织病理学是诊断胶原瘤和黏液痣的金标准。我们报告了第一例粘液性痣伴多发性胶原瘤,表现出特定的临床特征。
    Connective tissue nevus is a hamartoma composed of excess amounts of one or several components of the dermis, such as collagen, elastin, and proteoglycans. This report introduces a 14-year-old girl with grouped flesh color papules and skin color nodules distributed unilaterally with a dermatomal pattern. These lesions involved more than one segment. Histopathology is the gold standard for diagnosing collagenoma and mucinous nevus. We reported the first case of mucinous nevus with multiple collagenoma that shows the specific clinical features.
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  • 文章类型: Case Reports
    胶原瘤是结缔组织痣,其特征在于细胞外基质中胶原的分布和量的不平衡。Shagreen补丁,结节性硬化症的胶原瘤,是这种遗传性皮肤病(结节性硬化症)的经典发现。虽然典型的病变是一片浅绿色斑块,有些人只表现出小的胶原瘤,这些可能会阻碍结节性硬化症的诊断,从而掩盖潜在的全身受累,正如我们在这种情况下所报道的那样,其中一名22岁的男性在进一步研究中表现为面部节段性胶原瘤和大脑的钙化室管膜下结节。
    Collagenomas are connective tissue nevi characterized by an imbalance in the distribution and amount of collagen in the extracellular matrix. Shagreen patch, a collagenoma of tuberous sclerosis, is a classical finding in this genodermatosis (Tuberous Sclerosis). Though the prototypical lesion is a shagreen patch, some individuals manifest only small collagenomas, and these can hinder a diagnosis of tuberous sclerosis and thus mask underlying systemic involvement as was seen in this case we have reported, wherein a 22-year-old male presented with segmental collagenomas over the face and calcified subependymal nodules of the brain on further investigation.
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  • 文章类型: Journal Article
    多发性内分泌瘤1型(MEN1),常染色体显性遗传性肿瘤综合征,经典定义为由“3Ps”引起的肿瘤:甲状旁腺,垂体,和内分泌胰腺。从它最早的描述来看,MEN1与其他内分泌和非内分泌肿瘤表现相关。高质量的证据支持致病性MEN1变体与皮肤肿瘤(血管纤维瘤和胶原瘤)之间的直接关联,脂肪组织(脂肪瘤和冬眠),和平滑肌(平滑肌瘤)。虽然中枢神经系统肿瘤,黑色素瘤,and,最近,乳腺癌已被报道为MEN1临床表现,迄今为止发表的证据还不足以确定因果关系。精心设计,多中心前瞻性研究将帮助我们更好地了解这些肿瘤与MEN1的关系,此外还将验证有据可查的肿瘤关联的真实患病率和外显率。然而,受MEN1影响的患者应该意识到这些非内分泌表现,应鼓励提供者在治疗MEN1患者时始终超越“3Ps”。
    Multiple endocrine neoplasia type 1 (MEN1), an autosomal-dominantly inherited tumor syndrome, is classically defined by tumors arising from the \"3 Ps\": Parathyroids, Pituitary, and the endocrine Pancreas. From its earliest descriptions, MEN1 has been associated with other endocrine and non-endocrine neoplastic manifestations. High quality evidence supports a direct association between pathogenic MEN1 variants and neoplasms of the skin (angiofibromas and collagenomas), adipose tissue (lipomas and hibernomas), and smooth muscle (leiomyomas). Although CNS tumors, melanoma, and, most recently, breast cancer have been reported as MEN1 clinical manifestations, the published evidence to date is not yet sufficient to establish causality. Well-designed, multicenter prospective studies will help us to understand better the relationship of these tumors to MEN1, in addition to verifying the true prevalence and penetrance of the well-documented neoplastic associations. Nevertheless, patients affected by MEN1 should be aware of these non-endocrine manifestations, and providers should be encouraged always to think beyond the \"3 Ps\" when treating an MEN1 patient.
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  • 文章类型: Case Reports
    胶原瘤是一种罕见的良性皮肤病变,分类为正常胶原纤维和不同数量的弹性纤维的错构瘤增生。它们最常见于手臂或躯干,可能表现为单发或多发性病变。作为综合征的一部分(如考登综合征,结节性硬化症,或MEN1)或零星且大小各异。在这里,我们报告了一例在双脚背部的不寻常位置发现的大型获得性胶原瘤。
    Collagenoma is a rare benign skin lesion classified as a hamartomatous proliferation of normal collagen fibres and varying amounts of elastic fibres. They most frequently occur on the arms or trunk and may present as solitary or multiple lesions, as part of a syndrome (such as Cowden Syndrome, Tuberous Sclerosis, or MEN1) or sporadic and of varying sizes. Herein, we report on a case of large acquired collagenomas found in an unusual location on the dorsum of both feet.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    Buschke-Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in LEMD3 . Here, we describe a family diagnosed to have varied phenotypes associated with BOS. Single gene testing of LEMD3 detected a heterozygous frameshift pathogenic variant in both the affected family members. Besides the phenotypic description, this report highlights the need for a comprehensive evaluation in connective tissue disorders and the importance of genotype-phenotype correlation in BOS.
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  • 文章类型: Case Reports
    Collagenomas are connective tissue naevi composed predominantly of collagen. Isolated collagenomas are usually localized to a single body region, acquired, and of rare occurrence. We describe a patient with an isolated collagenoma that showed an increase in size during pregnancy and regressed afterwards.
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  • 文章类型: Journal Article
    The dermoscopic features of solitary storiform collagenomas (sclerotic fibromas) have not been described previously, as these are rare cutaneous soft tissue tumors. The presence of multiple lesions is considered a marker of Cowden syndrome. They can also present as single firm cutaneous nodules. We present an unusual single nodule with distinct dermoscopic and histologic features.
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  • 文章类型: Journal Article
    Collagenoma is a type of connective tissue nevi, a rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas present as multiple or solitary, hereditary or sporadic, asymptomatic, skin-colored papules, nodules, and plaques with variable sizes, and are usually located on the trunk, arm, and back. Here, we report on a 14-year-old boy who presented with an isolated giant collagenoma of the frontal area that dramatically responded to intralesional triamcinolone acetonide.
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