elastin and Vascular-Malformations

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disease characterized by elongation and tortuosity of the large- and medium-sized arteries. ATS patients display features that are also found in Ehlers-Danlos syndrome (EDS) patients. ATS is caused by pathogenic mutations in the SLC2A10 gene, which encodes for the glucose transporter, GLUT10. This study aimed at examining the ultrastructure of skin for abnormalities that can explain the loose skin and arterial phenotypes of Arab patients with the p.S81R mutation in SLC2A10. Forty-eight patients with SLC2A10 mutation were recruited for this study. Skin biopsy specimens from three children with ATS and a healthy child were examined by electron microscopy to determine the ultrastructure of collagen and elastin. Histopathologic staining of sections from tissue biopsy specimens was also performed. Large spaces were observed among the collagen fibrils in the skin biopsy specimens obtained from ATS patients, suggesting disorganization of the collagen structures. Furthermore, elastin fiber contents and their thickness are reduced in the skin. In small muscular arteries in the skin from ATS patients, discontinuous internal elastic lamina, lack of myofilaments, and disorganized medial smooth muscle cells with vacuolated cytoplasm are present. The disorganization of collagen fibrils and reduced elastin contents in the skin may explain the loose skin phenotype of ATS patients similar to the EDS patients. The lack of elastin in small muscular arteries may have contributed to the development of arterial tortuosity in these patients.

Topics: Arabs; Arteries; Collagen; Ehlers-Danlos Syndrome; Elastin; Humans; Joint Instability; Skin Diseases, Genetic; Vascular Malformations

Elastic fibers provide reversible elasticity to the large arteries and are assembled during development when hemodynamic forces are increasing. Mutations in elastic fiber genes are associated with cardiovascular disease. Mice lacking expression of the elastic fiber genes elastin ( Eln

Topics: Animals; Animals, Newborn; Aorta; Aortic Aneurysm; Arteries; Collagen Type VIII; Disease Models, Animal; Elastic Tissue; Elastin; Extracellular Matrix Proteins; Female; Gene Expression Regulation, Developmental; Insulin-Like Growth Factor Binding Protein 2; Joint Instability; Mice, Knockout; Oligonucleotide Array Sequence Analysis; Protein-Lysine 6-Oxidase; Skin Diseases, Genetic; Thrombospondin 1; Vascular Malformations

Some investigations in Arterial Tortuosity Syndrome (ATS) suggest that impaired intracellular transport of the oxidized form of vitamin C (dehydroascorbic acid, DHAA) is at the core of the pathogenesis. Lack of vitamin C for lysyl- and prolyl-hydroxylase activity may explain the defects in collagen and elastin formation found in ATS, and draws strong parallels between ATS and scurvy. Topically applied vitamin C has a well-established basis in the field of skin care, and part of its benefit is attributed to proper collagen formation in the skin. The ATS studies suggest that DHAA transport is necessary for normal skin collagen formation, and this has implications as to the forms of vitamin C best-suited for topical skin care.

Topics: Arteries; Biological Transport, Active; Collagen; Dehydroascorbic Acid; Elastin; Glucose Transport Proteins, Facilitative; Humans; Joint Instability; Mutation; Skin Care; Skin Diseases, Genetic; Vascular Malformations

Sporadic and familial elastin mutations can occur in large vessel stenosis such as supravalvular aortic stenosis and narrowing of the descending aorta. However, there are very few reports regarding the arteriopathy of cerebral, pulmonary or abdominal arteries in elastin mutations. We herein report the case of a Japanese female patient presenting with multiple arteriopathy including moyamoya disease, a tortuosity of abdominal arteries and pulmonary hypertension due to peripheral pulmonary artery stenosis. This case suggests the possible progression of cerebral arteriopathy including moyamoya disease in patients with elastin mutations. © 2016 Wiley Periodicals, Inc.

Topics: Adult; Arteries; Constriction, Pathologic; Elastin; Female; Humans; Joint Instability; Moyamoya Disease; Mutation; Phenotype; Skin Diseases, Genetic; Vascular Malformations

The aim of our case report was to analyse the results obtained with the Matriderm® system and autologous skin grafting for the surgical treatment of skin necrosis of scrotum as a result of endovascular embolisation. We recruited one patient with scrotum skin necrosis as a result of endovascular embolisation admitted at the department of Plastic and Reconstructive Surgery, University of Rome 'Tor Vergata'. The patient underwent Matriderm® system and autologous skin grafting for skin necrosis treatment. After a single treatment, reduction of the skin necrosis was obtained, after 30 days from the surgical treatment. Patient experienced a reduction in pain and a complete restoration of the loss in volume and quality of skin was noticed. Matriderm® system and autologous skin grafting is a simple, safe and feasible technique. When comparing this treatment with others, Matriderm® is a simpler, more economic and less time-consuming method, and does not require sophisticated laboratory facilities.

Topics: Adult; Collagen; Dermatologic Surgical Procedures; Elastin; Embolization, Therapeutic; Endovascular Procedures; Humans; Male; Necrosis; Plastic Surgery Procedures; Scrotum; Skin; Skin Transplantation; Skin, Artificial; Transplantation, Autologous; Vascular Malformations