Progeria

Badame, A. J.

doi:10.1001/archderm.125.4.540

Cited by 16 publications

(9 citation statements)

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“…The diagnosis of HGPS is essentially clinical,[4] as in the present patient, although other diseases may phenotypically mimic HGPS early in life (i.e., Wiedemann–Rautenstrauch Syndrome and restrictive dermopathy). [5] The characteristic features are usually recognized during the second year of life.…”

Section: Discussionmentioning

confidence: 99%

Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis

et al. 2011

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Hutchinson–Gilford progeria syndrome (HGPS) is a rare premature aging syndrome that results from mutation in the Laminin A gene. This case report of a 12-year-old girl with HGPS is presented for the rarity of the syndrome and the classical clinical features that were observed in the patient. All patients with this condition should undergo early and periodic evaluation for cardiovascular diseases. However, the prognosis is poor and management is mainly conservative. There is no proven therapy available. Mortality in this uniformly fatal condition is primarily due to myocardial infarction, strokes or congestive cardiac failure between ages 7 and 21 years due to the rapidly progressive arteriosclerosis involving the large vessels.

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Section: Discussionmentioning

confidence: 99%

Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis

et al. 2011

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“…Associated diseases Generalized arteriosclerotic changes Widespread atherosclerosis -interstitial fibrosis of heart Dermal hyaline fibrosis Data from Badame [1989]; Beauregard and Gilchrest [1987]; Brown et al [1985]; DcBusk [1972]; Franklyn [1976]: Khalifa [1989]; Gabr et al [I960]; Tollefsbol and Gracy [1983]; Schneider and Bynum [1983], and Brown [1979]. Martin [1978]; Brown et al [1985]; Franklyn [1976], and Khalifa [1989], cade and death occurs in the 5th decade often due to atherosclerotic complications.…”

Section: Skeletal Manifestations Thin Cranial Bones With Fontanelles mentioning

confidence: 99%

“…Autosomal recessive inheritance has been postulated for Werner's syndrome, Cock ayne's syndrome, ataxia telangiectasia, and Bloom's syndrome [Beauregard and Gilchrest, 1987;Martin, 1978], In contrast, pro geria and myotonic dystrophy have been proposed as autosomal dominant diseases [Badame, 1989;Beauregard and Gilchrest, 1987;Brown et al, 1985], Genetic analysis would benefit from the possible advantage of a single allele disorder on one chromosome. A complication with progeria is the inability to prove its mode of inheritance because as a general rule these patients do not reproduce [Badame, 1989;Beauregard and Gilchrest, 1987;Brown et al, 1985;DeBusk, 1972]. Remarkably a recent report has appeared describing fertility in a case of progeria; how ever, the subject exhibited a marked delay in the onset of classical symptoms [Corcoy et al, 1989], Premature ageing in Werner's syndrome has a delayed onset and the progression of the various ageing changes is variable [Ep stein et al, 1966], This infers that the disease is not a simple expression of a single gene defect.…”

Section: Ageing Diseases As Models O F 'Normal' Ageingmentioning

confidence: 99%

Does Progeria Provide the Best Model of Accelerated Ageing in Humans?

Mills

Weiss²

1990

Gerontology

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Studies of the causes of ageing are often obscured by the complexity of this phenomenon, hindering investigations in this area. In particular, the variable characteristics of ageing complicate analysis at a molecular level. It is proposed that to gain insight into ageing, the problem must first be simplified by restricting studies to an aspect of the ageing processes. It is suggested that progeria, which presents a less complicated etiology and phenotype than other accelerated ageing diseases, allows research to focus on a regulation site involved in development and ageing.

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“…Hyaluronic acid excretion is increased from fibroblasts and there is extensive lipofuscin deposition. [10]…”

Section: Discussionmentioning

confidence: 99%

“…Hypertension develops, but unlike arteriosclerosis in the general population, in progeria, the only lipid abnormality is decreased HDL levels. [10]…”

Section: Discussionmentioning

confidence: 99%

Hutchinson - Gilford progeria syndrome: A rare case report

Kashyap

Shanker

Sharma

2014

Indian Dermatol Online J

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Hutchinson – Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic “plucked-bird” appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome. This interesting case is reported for its rarity.

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Progeria

Cited by 16 publications

References 0 publications

Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis

Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis

Does Progeria Provide the Best Model of Accelerated Ageing in Humans?

Hutchinson - Gilford progeria syndrome: A rare case report

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