Abstract:
:Glomuvenous malformations (GVM) are hamartomas characterized histologically by glomus cells, which should be distinguished from glomus tumors. Familial GVM are rare, often present as multiple lesions, and exhibit familial aggregation, with autosomal dominant transmission. GVM are caused by mutations of the glomulin (GLMN) gene on chromosome 1p21-p22. Their development is thought to follow the 'two-hit' hypothesis, with a somatic mutation required in addition to the inherited germline mutation. We describe a novel GLMN mutation in an Italian family with GVM in which some members present with the less commonly observed phenotype of solitary lesions. A second somatic 'hit' mutation in GLMN was not discovered in our family. We further provide histological, immunohistochemical and electron microscopic data exhibiting the classic features of GVM. The diagnosis of GVM is critical because of distinction from venous malformations and blue rubber bleb nevus syndrome, which may demonstrate clinical similarities but require different treatment.
journal_name
Exp Dermatoljournal_title
Experimental dermatologyauthors
Borroni RG,Narula N,Diegoli M,Grasso M,Concardi M,Rosso R,Cerica A,Brazzelli V,Arbustini Edoi
10.1111/j.1600-0625.2011.01387.xsubject
Has Abstractpub_date
2011-12-01 00:00:00pages
1032-4issue
12eissn
0906-6705issn
1600-0625journal_volume
20pub_type
信件abstract::We have developed a new technique that rapidly and reproducibly allows direct visualization of molecular interactions, including receptor-ligand binding. The technique can be easily applied to examine binding between proteins and glycoproteins, or proteins and glycolipids, including gangliosides. In this novel bead-bi...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1034/j.1600-0625.2002.110510.x
更新日期:2002-10-01 00:00:00
abstract::Antibodies, specific to murine DEC205, can be used to target antigens to dendritic cells. The immunodominant domain of human type XVII collagen, hNC16A, was fused to this antibody (DEC-hNC16A) and was administered as expression plasmid by gene gun transfection with the aim of inducing tolerance to human type XVII coll...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/j.1600-0625.2012.01474.x
更新日期:2012-05-01 00:00:00
abstract::Bullous pemphigoid (BP) is the most common autoimmune subepidermal blistering skin disease and is characterized by the presence of autoantibodies directed against the hemidesmosomal proteins BP180 and BP230 that can be detected in the skin and serum of BP patients. Histologically, the dermal infiltration of eosinophil...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/exd.13416
更新日期:2017-12-01 00:00:00
abstract::Epidermal keratinocytes undergo a continuous process of terminal differentiation, which is accompanied by a dramatic change in the expression and composition of keratins. This complex and carefully orchestrated process is regulated by a large number of signal transduction events and transcriptional factors as well as ...
journal_title:Experimental dermatology
pub_type: 评论,杂志文章
doi:10.1111/exd.12434
更新日期:2014-09-01 00:00:00
abstract::5-methoxypsoralen (5-MOP) is considered an alternative to 8-methoxypsoralen (8-MOP) for photochemotherapy of psoriasis. We have compared the clinical efficacy and tolerability of 5-MOP (1.2 mg/kg)-UVA versus 8-MOP (0.6 mg/kg)-UVA therapy in 25 patients of skin type III and IV, affected by relapsing plaque-type psorias...
journal_title:Experimental dermatology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0625.1992.tb00071.x
更新日期:1992-07-01 00:00:00
abstract::In the last decade, significant progress has been made in understanding skin cancer cell death resistance mechanisms, and a number of new treatment strategies have been developed. Systematic approach genomic studies of various cancer types have opened new possibilities for the development of anticancer therapies. Howe...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.13309
更新日期:2017-10-01 00:00:00
abstract::Psoriasis is a chronic skin disease that results in red and scaly lesions. Several psoriasis susceptibility loci have been identified across the genome, of which PSORS1 on 6p21.3 is predominant. There is an ongoing debate regarding whether the HLA-C allele, Cw*0602, can be considered the major predisposing factor in t...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1034/j.1600-0625.2003.00048.x
更新日期:2003-08-01 00:00:00
abstract::DECORIN is a prototypical member of the small leucine-rich proteoglycan (SLRP) family that plays important roles in numerous biological processes and cellular biological pathways. We previously showed that Decorin expression was highly enhanced in mouse dorsal hair follicles (HFs) during the anagen phase and was reduc...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.13770
更新日期:2018-11-01 00:00:00
abstract::While the central role of mast cells (MC) in allergy and inflammation is well-appreciated, much less is known about their physiological functions. The impressive battery of potent growth modulatory MC products, and increasing evidence of MC involvement in hyperproliferative and fibrotic disorders suggest that tissue r...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0625.1995.tb00256.x
更新日期:1995-08-01 00:00:00
abstract::Ultraviolet (UV) radiation contained in sunlight is considered a major risk in the induction of skin cancer. While mast cells are best known for their role in allergic responses, they have also been shown to play a crucial role in suppressing the anti-tumour immune response following UV exposure. Evidence is now emerg...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0625.2012.01438.x
更新日期:2012-04-01 00:00:00
abstract::Insulin-like growth factor 1 (Igf1) is important for skin development and homoeostasis. However, overexpression and inactivation studies have produced variable findings regarding its role in hair follicle (HF) biology. Here, we studied a conditional and inducible knockout of the Igf1 receptor (Igf1r) in keratin 15-exp...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.13287
更新日期:2017-09-01 00:00:00
abstract::Primary cutaneous large B-cell lymphomas, leg type (PCLBCL/LT) are primary cutaneous B-cell lymphoma (PCBCL) with an intermediate prognosis. Therefore, antracycline-based polychemotherapy combined with rituximab has been recommended as first-line treatment. Yet, despite this regimen, the 5-year survival rate remains 5...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.12688
更新日期:2015-06-01 00:00:00
abstract::Type XVII collagen (COL17) is a transmembrane protein expressed in the basal epidermis. COL17 serves as a niche for epidermal stem cells, and although its reduction has been implicated in altering cell polarity and ageing of the epidermis, it is unknown how COL17 affects epidermal cell polarity. Here, we uncovered COL...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.14196
更新日期:2021-01-01 00:00:00
abstract::Electrical stimulation is being used in variable skin therapeutic conditions. There have been clinical studies demonstrating the positive effect of electrical stimuli on hair regrowth. However, the underlying exact mechanism and optimal parameter settings are not clarified yet. To investigate the effects of different ...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.12827
更新日期:2015-12-01 00:00:00
abstract::The p53 gene is mutated in numerous human cancers. We used it as a molecular target to characterize and try to understand the induction of mutations in human skin cancers. About 40-50% of all skin cancers in normal individuals and 60-80% of the DNA-repair-deficient xeroderma pigmentosum patients exhibit p53 mutations....
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1034/j.1600-0625.11.s.1.11.x
更新日期:2002-01-01 00:00:00
abstract::We aimed to evaluate the effect of small interfering RNA (siRNA) targeting CTGF on extracellular matrices (ECMs) metabolism in normal and SSc fibroblasts. Normal and SSc fibroblasts were transfected with CTGF-specific siRNAs to silence CTGF synthesis. After silencing CTGF, production of type I collagen and matrix meta...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2009.00999.x
更新日期:2010-08-01 00:00:00
abstract::The role of placebo and nocebo effects-that is positive or negative treatment effects that are entirely a consequence of the patient's expectations and beliefs about a treatment outcome in terms of efficacy, safety, usability or side effects-has been shown for almost all types of diseases and physiological response sy...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.13158
更新日期:2017-01-01 00:00:00
abstract::Ultraviolet radiation (UVR) is known to be involved in the initiation and progression of malignant melanoma. Many studies have focused on the initiation of melanoma, but less is known about the effect of UVR on established tumor cells. Here, we show that after ultraviolet-B (UVB) irradiation, melanoma cells (MM) are a...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2007.00572.x
更新日期:2007-08-01 00:00:00
abstract:INTRODUCTION:The aetiology of mycosis fungoides and parapsoriasis (which may be considered as an early stage of mycosis fungoides) remains debated. Previous recent studies have suspected the involvement of viral agents and particularly human herpes viruses (HHV).The aim of the present study was to screen for the presen...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2008.00787.x
更新日期:2009-04-01 00:00:00
abstract::Hair follicle heterogeneity may be regulated by distinct dermal papillae (DP) that represent mesenchymal lineages, which can be defined by Sox2 expression. However, it was recently shown that GFP expression in the Sox2: GFP+/- mouse model occurs in the DPs of all hair follicle types, challenging the idea that hair fol...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/exd.13396
更新日期:2017-11-01 00:00:00
abstract::Optical coherence tomography (OCT) is a novel non-invasive imaging technique for in vivo histologic characterization of tissues. Besides pure morphology, additional functional parameters of the tissue investigated can be evaluated at the same time, such as the refractive index and the scattering coefficient. The purpo...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.0906-6705.2005.00229.x
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:In vivo reflectance confocal microscopy (RCM) represents a promising imaging tool that allows a non-invasive examination of skin morphology in real time at nearly histological resolution, showing microanatomical structures and individual cells. OBJECTIVES:The aim of our study was to evaluate the diagnostic ...
journal_title:Experimental dermatology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0625.2008.00822.x
更新日期:2009-06-01 00:00:00
abstract::The effects of prostaglandin (PG) I1 analog, SM-10906 (SM-6) and PGE1 on extracellular matrix formation and the release of cytokines by cultured normal human dermal fibroblasts (NDF) and hypertrophic scar fibroblasts (HSF) were compared in order to evaluate the clinical efficacy of PGs in preventing scar formation. In...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.1997.tb00179.x
更新日期:1997-12-01 00:00:00
abstract::In the last decades melanoma incidence has been increasing worldwide, while mortality remained on a high level. Until now, there is no suitable therapy for metastasized melanoma, which could lead to a significant increase in overall survival. Apoptosis deficiency is supposed to be a critical factor for therapy resista...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0625.2007.00655.x
更新日期:2008-01-01 00:00:00
abstract::The last decade has seen a considerable improvement in the understanding of the biology of melanoma. Advances have come in the understanding of the importance of critical oncogenes and tumour suppressor genes, epigenetic phenomena, signalling pathways, drug resistance mechanisms, the pivotal role of the local immune s...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0625.2007.00673.x
更新日期:2008-05-01 00:00:00
abstract::We screened a panel of 8 primary and 21 metastatic melanoma cell lines for constitutive secretion of cytokines. Melanomas expressed bioactivity for TGF-beta (8/25 lines) and IFN (7/12), but not IL-2. Immunoassays detected IL-1 alpha (4/25), IL-1 beta (12/25), IL-6 (13/29), IL-8 (29/29), TGF-beta 2 (5/12) and GM-CSF (1...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.1993.tb00031.x
更新日期:1993-08-01 00:00:00
abstract::The ethanolic extract of Resina Draconis (RDEE) has been reported beneficial to normal wound healing yielding more regularly arranged collagen fibres. Loureirin B, a major component in RDEE, has been supposed to be effective on the prevention and treatment of pathological scars. To investigate the therapeutic effects ...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/exd.12665
更新日期:2015-05-01 00:00:00
abstract::Primary hyperhidrosis is characterized by excessive sweating in palmar, plantar and axillary body regions. Gland hypertrophy and the existence of a third type of sweat gland, the apoeccrine gland, with high fluid transporting capabilities have been suggested as possible causes. This study investigated whether sweat gl...
journal_title:Experimental dermatology
pub_type: 信件
doi:10.1111/j.1600-0625.2011.01361.x
更新日期:2011-12-01 00:00:00
abstract::Terence Kealey first pioneered the isolation and organ maintenance of human eccrine and sebaceous glands in the early to mid-1980. This led to subsequent methods describing the isolation and culture of human hair follicles, the human pilosebaceous unit as well as the sebaceous duct. The importance of these models in t...
journal_title:Experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/exd.13669
更新日期:2018-05-01 00:00:00
abstract::Bullous pemphigoid (BP) and pemphigoid gestationis (PG) are acquired autoimmune subepidermal blistering diseases characterized by autoantibodies against the hemidesmosomal proteins BP180/type XVII collagen and BP230. In the vast majority of BP and PG patients, these autoantibodies bind to epitopes clustered within the...
journal_title:Experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1600-0625.2007.00592.x
更新日期:2007-09-01 00:00:00