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A sporadic syndrome of premature aging with characteristic facies, severe cardiac lesions (including myocardial infarction), and various orthopedic and otorhinolaryngologic lesions.


This 6-year-old boy with alopecia, thin skin, and hypoplastic ear lobes has progeria.


This 6-year-old boy with progeria is wearing his (funny) sunglasses because of his light photosensitivity and cataracts. Aside from the obvious features of progeria, note the sternotomy scar resulting from coronary artery bypass grafting secondary to severe coronary sclerosis.

Hutchinson-Gilford Progeria Syndrome; Gilford Syndrome; Premature Senility Syndrome.

Rare genetic disease characterized by premature aging. First described by Jonathan Hutchinson in 1886.

Sporadic cases. Fewer than 100 cases reported in the literature. Progeria affects between 1:4 million (estimated actual) and 1:8 million (reported) live births.

In most patients, the syndrome is caused by random genetic changes occurring for unknown reasons. Because it occurs sporadically, it is believed to be an autosomal recessive disorder. However, these mutations might be transmitted as an autosomal dominant trait. Male:female ratio is 1.5:1. Whites account for 97% of all reported cases.

A reduction in the amount of cell DNA repair activity has been demonstrated and postulated as a cause of the premature aging. The genes controlling cell division and DNA or RNA synthesis and processing commonly are downregulated in elderly people and in progeria (15 genes involved). This suggests that abnormal regulation of the separation of the chromosomes during cell division occurs. There are characteristic changes in expression of actin-binding proteins (caldesmons), which are involved in cell cycle-dependent reorganization of the cytoskeleton, desmoplakin I, which plays a role in intercellular adhesive junctions, and autotaxins, which are involved in cellular chemotaxis. On the other hand, transforming growth factor-β (TGF-β) is highly upregulated in patients with progeria, thus yielding tissue fibrosis.

No firm diagnostic criteria have been described in patients with premature aging of postnatal onset, including characteristic facies, musculoskeletal abnormalities, and early death caused by atherosclerosis and/or myocardial ischemia.

Clinical manifestations are evident by the first or second year of life. The appearance includes facial hypoplasia with micrognathia, thin skin, alopecia, dental late eruption, ophthalmic abnormality (microphthalmia, exophthalmia, cataract), ear abnormality (hypoplastic lobe, conductive hearing loss), and a high-pitched voice. Cardiovascular lesions are severe and frequent, characterized by a progressive atherosclerosis (coronary, aortic, and cerebral artery). Hypertension, myocardial infarction, or congenital heart failure often cause premature death. There is no mental retardation. Orthopedic modifications are numerous: hip dislocation, early osteoporosis, dwarfism, restricted joint mobility, clavicle anomalies, and large fontanel. Hypoplastic toe nails are frequent. Hypogonadism and diabetes can be observed.

Obtain full personal history to find existence of symptomatic vascular or CNS disorders. Cardiovascular evaluation is ...

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