1/4. Acrogeria of the Gottron type in a mother and son.We report a familial case of acrogeria in a mother and son, with characteristic cutaneous involvement and no clinical signs of vascular ehlers-danlos syndrome (former EDS type IV) in spite of some tendency to bruising. The biochemical and molecular studies did not disclose any abnormality of collagen type iii, which favours the diagnosis of acrogeria. It appears that recognition of acrogeria as an entity is of clinical significance since these cases are not associated with systemic involvement, and specifically with rupture of vessels and internal organs, occasionnally occurring in EDS.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/4. cutis laxa in hereditary gelsolin amyloidosis.BACKGROUND: Hereditary gelsolin amyloidosis (AGel amyloidosis) is an age-associated systemic disease with global distribution, caused by a G654A or G654T gelsolin gene mutation. cutis laxa is a principal clinical manifestation of this disease. However, only few data on the dermatological involvement are available, and the pathogenesis of this amyloidosis-associated form of cutis laxa has remained unknown. OBJECTIVES: To elucidate the pathomechanism of this less well-known genodermatosis. methods: We performed systematic clinical, histological, immunohistochemical and ultrastructural skin biopsy studies in 12 patients with a G654A gelsolin gene mutation. For comparison, skin specimens from 10 control subjects were analysed. RESULTS: All patients had clinically characteristic cutis laxa, and frequently other signs of symptomatic skin disease such as increased fragility and risk for intracutaneous bleeding. All patients showed cutaneous deposition of gelsolin amyloid (AGel), mainly attached to basement membranes or basal laminae of various cutaneous structures, dermal nerves and blood vessel walls, and elastic fibres, particularly in the lower reticular dermis. AGel often encircled the elastic fibres, and colocalized with amyloid P component (AP), an elastic fibre microfibrillar sheath-associated protein. Fragmentation and loss of elastic fibres, epidermal atrophy, and reduction of dermal appendages were also common. antibodies to wild-type gelsolin bound to S-100-positive epidermal dendritic cells, a previously unrecognized immunoreaction. patients had fewer gelsolin-positive dendritic cells than controls. CONCLUSIONS: Widespread skin involvement with AGel deposition and elastic fibre involvement are essential pathological features in AGel amyloidosis, and contribute to the characteristic cutis laxa, dramatic in old age. Codistribution of AGel and AP, with demonstrated specific binding affinity for amyloid fibrils, suggests that elastic fibre-associated AP acts as a matrix for cutaneous amyloid deposition in AGel amyloidosis.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/4. Acquired cutis laxa associated with chronic urticaria.A 31-year-old man had cutis laxa after an urticarial eruption. He had no systemic manifestations. In urticarial lesions, elastolysis occurred only within the inflammatory infiltrate of neutrophils around the vessels and between the collagen bundles. In lax skin, elastolysis occurred throughout the entire dermis. Electron microscopic study showed a markedly decreased number of elastic fibers, with elastolysis most predominant near the inflammatory cells. These findings suggest that the neutrophil plays a significant role in the destruction of elastic fibers and subsequent development of cutis laxa.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/4. cardiovascular abnormalities in cutis laxa.cutis laxa is manifest histologically by fragmentation of elastic tissue throughout the body. The aorta and other systemic vessels show dilatation, elongation and even aneurysm formation. We report multiple pulmonary artery branch stenoses in a child who had cutis laxa. pulmonary artery stenoses may be the cause of the pulmonary hypertension and right heart failure observed in patients with this condition.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |