Fibroelastolytic papulosis of the neck (FEPN) encompasses a spectrum of two disorders that were previously reported as pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) and white fibrous papulosis of the neck (WFPN). The clinical presentation of FEPN is asymptomatic to mildly pruritic whitish-yellow papules that may coalesce into cobblestone patterned plaques that resemble pseudoxanthoma elasticum (PXE). The histology is characterized by a decrease or loss of elastic fibers in the papillary dermis and this is sometimes accompanied by a minimal or nodular increase of dermal collagen fibers. We report here on a 28-year-old Korean man with asymptomatic, multiple, skin-colored to slightly yellowish, match-head sized, cobblestone-patterned papules on the neck, and these were histologically consistent with FEPN and the papules showed slightly increased dermal collagen associated with decreased and fragmented elastic fibers, elastin and tropoelastin. The pathogenesis of FEPN in this case might have been related with mild dermal inflammation, followed by fragmentation, elastolysis and increased dermal collagen.
Adult ; Collagen ; Dermis ; Elastic Tissue ; Elastin ; Humans ; Inflammation ; Neck ; Pseudoxanthoma Elasticum ; Tropoelastin

OBJECTIVES: To evaluate the relation between single nucleotide polymorphisms (SNPs) of tropoelastin gene and aortic dissection (AD) via identifying SNPs in the tropoelastin gene, and to detect the level of tropoelastin mRNA, elastin and elastic fibers. METHODS: The specimens of the AD group ( RESULTS: Seven SNP loci of the tropoelastin gene were detected in these samples. Among them, 5 SNP loci were polymorphic. The frequency of 3 SNP loci[rs2071307 (G/A), rs34945509 (C/T) and rs17855988 (G/C)] was significantly different between the AD group and the control group (all CONCLUSIONS The polymorphisms of rs2071307 (G/A), rs34945509 (C/T), and rs17855988(G/C) in the tropoelastin gene may eventually affect the synthesis of elastic fibers and they may play an important role in the occurrence of AD.
Aneurysm, Dissecting/genetics* ; Elastic Tissue ; Elastin/genetics* ; Humans ; Polymorphism, Single Nucleotide ; Tropoelastin/genetics*

BACKGROUNDThe pathological characteristics of abdominal aortic aneurysm (AAA) involved the regression of extracellular matrix (ECM) in aortic walls, especially elastic structure in medial layer. As the major structural protein of aorta, elastin contributes to the extensibility and elastic recoil of the vessels. We hypothesized that overexpression of elastin in vessel walls might regenerate the elastic structure of ECM, restore the elastic structure of the aneurysmal wall, and eventually lead to a reduction of aortic diameters (ADs) in an experimental model of AAA.

METHODSTropoelastin (TE) of Sprague Dawley (SD) rat was synthesized by reverse transcription polymerase chain reaction and used to construct adneviral vectors containing elastin precursor protein (AdTE-GFP). Cultured vascular smooth muscle cells (VSMCs) from aortas of male SD rats were transfected with AdTE-GFP, AdGFP, adenoviral vector (AdNull), and phosphate buffered saline (PBS). Immunofluorescence staining was performed to determine the expression of elastin in transfected cells. The expression of elastic fibers in ECM of VSMCs transfected with AdTE-GFP were detected by fluorescence microscopy and transmission electron microscopy (TEM) at 1, 3, and 5 days following gene transfer. The AAA vessel walls were infused with AdTE-GFP or an empty AdNull, or PBS directly into the aneurysmal lumen. ADs of the aneurysms were compared in infused aortas. Formation of new elastic fibers in vivo was assessed by hematoxylin and eosin, and elastic von-Giesson staining. Recombinant elastin-GFP in vivo was identified by immunohistochemical staining.

RESULTSElastic fibers were increased both in ECM of VSMC and in vessel walls after gene transfer. Histological studies revealed that the AdTE-GFP-transduced aortas had elastic fiber regeneration in the aneurysmal walls. The AdTE-GFP-transduced aortas showed a decreased AD (23.04% ± 14.49%, P < 0.01) in AAA vessel walls.

CONCLUSIONSElastic fibers have been successfully overexpressed both in vitro and in a rat model of AAA by a technique of gene transfer. The overexpression of elastic fibers within the aneurysmal tissue appeared to reverse the aneurysm dilatation in this model.

Animals ; Aortic Aneurysm, Abdominal ; metabolism ; therapy ; Elastic Tissue ; metabolism ; Elastin ; genetics ; metabolism ; Fluorescent Antibody Technique ; Male ; Muscle, Smooth, Vascular ; metabolism ; Rats ; Rats, Sprague-Dawley ; Tropoelastin ; genetics ; metabolism

A 63 year-old woman visited our hospital with a palpable chest wall mass in the infrascapular region. We performed excision of the mass. The mass was histolocally diagnosed as elastofibroma. Elastofibroma is characterized by the proliferation of fibrous tissue with elastin. It is a relatively slow growing benign soft tissue tumor and it is most often found in the infrascapular region. We have experienced a cases of this rare disease and we report on it together with a review of the relevant literature.
Elastin ; Female ; Humans ; Rare Diseases ; Thoracic Wall ; Thorax

Elastofibroma dorsi, a rare, noncapsulated benign entity is characterized by the proliferation of fibrous tissue with elastin and occurs most often in the infrascapular area of elderly women. It is a relatively slowly growing lesion and no reports of malignant transformation exist. Which is overlooked easily because it rarely causes symptoms such as tenderness, pain, or restriction of movement. The diagnosis of elastofibroma is established by typical histopathologic findings. Radiographic evaluation may lead to a presumptive diagnosis. We experienced a case of elastofibroma dorsi in a 48-year-old woman and report this case with a review of the literature.
Aged ; Diagnosis ; Elastin ; Female ; Fibroma ; Humans ; Middle Aged

A 71-year-old woman visited our hospital with the chief complain of a mass in her infrascapular region. We performed tumor excision and we diagnosed it as elastofibroma dorsi. Elastofibromas are benign soft tissue tumors that mostly arise in the infrascapular lesion; it is a slowly growing lesion that's characterized by the proliferation of fibrous tissue with elastin. Its incidence is very low and its pathogenesis remains unclear. We report here on this case, and we include a review of the relevant literature.
Aged ; Elastin ; Female ; Fibroma ; Humans ; Incidence ; Thoracic Wall ; Thorax

Elastin is a natural biomedical material of great potential. Being endowed with the special crosslinking and hydrophobic structure, elastin retains many good properties such as good elasticity, ductibility, biocompatibility, biodegradability and so on. Nowadays, elastin as a material, which is gradually attracting people' s attention in the biomedical materials field, has been used as tissue engineering scaffolds, derma substitutes and other biomedical materials. In this context, a systematic review on the characteristics of elastin as a biomedical material and on the actuality of its application is presented. Future developments of elastin in the field of biomedical applications are also discussed.
Biocompatible Materials ; Elastin ; chemistry ; physiology ; Humans ; Skin, Artificial ; Tissue Scaffolds

Many factors influence the elastin-like polypeptides (ELPs) self-assembled into micron-sized particles. However, few efforts were made to investigate these factors. Using the ELPs [KV8F]n as the target, we studied systematically the factors with the dynamic light scattering. Our results show that the particle size increased and the uniform of particles decreased with the increase of the molecular weight. The analysis of size variation in self-assembled ELPs in response to changes in salt concentration indicated that the size increased with increasing the salt concentration, and the opposite response was observed when the concentration was above 0.4 mol/L. Under these conditions, the particles are micron-sized and larger than 1.1 μm. However, when the fusions containing the same ELPs and xylanase or 1,3-propanediol oxidoreductase, the size of the self-assembled ELPs particles decreased dramatically, which was only about 1/10 of that of the free ELPs. We proposed that the solvent accessible charged area of the enzymes could interact with the ELPs, the sterical hindrance of the enzymes prevent the aggregation of the ELPs. This might be the most important parameter in altering the particle size sharply.
Elastin ; chemistry ; Molecular Weight ; Particle Size ; Peptides ; chemistry ; Salts ; chemistry

Williams syndrome was first reported in 1961, it is characterized by distinct facial changes, growth deficiency, mental retardation, congenital heart defect (particularly the supravalvular aortic stenosis), associated at times with infantile hypercalcemia. The diagnosis of this disease relied on phenotype, after recent acknowledgement of its genetic basis on the 7th chromosomal locus q11.23 involving elastin gene on the PCR. Recently, commercial probe of elastin gene for FISH was supplied and diagnosed this disease easier. Using PCR has some benefits concerning whether the origin of the genetic defect is maternal or paternal. The diagnosis of this disease is difficult due to low sensitivity, below 50%. But FISH is widely used because it is faster with high positive predictibility. We report Williams syndrome diagnosed by FISH with a brief review and related literatures.
Diagnosis ; Elastin ; Heart Defects, Congenital ; Hypercalcemia ; Intellectual Disability ; Phenotype ; Polymerase Chain Reaction ; Williams Syndrome*

Anetoderma or Macular atrophy is a rare cutaneous disorder showing local atrophy and macular discoloration related to a local dermal defect of elastic tissiie without any other apparent change in the skin, which may show familial occurrence, called familial anetoderma. A 13-year-old female complained 3-year history of multiple asyrnptomatic atrophic macules on the trunk and both lower extremities, especially on both this. Elastic stain of skin lesion showed decrease of lastic tissue in the dermis. No other syst mic abnormalities were found on phisical examination. Her sister had same skin lesion on lower extremities and both buttocks, and had no ther systemic abnormalities. Despite infrequent occurence, the development of anetoderma among familial members possibly represents a congcnital defect of elastin. Because variou ocular, bony, cardiac, and gastrointestinal abnormalilies have been reported in familial anetoilerma, long-term follow up would be necessary.
Adolescent ; Anetoderma* ; Atrophy ; Buttocks ; Dermis ; Elastin ; Female ; Follow-Up Studies ; Humans ; Lower Extremity ; Siblings ; Skin