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Progeria

(Hutchinson-Gilford syndrome)

by Elizabeth J. Palumbo, MD

Progeria is a rare syndrome of accelerated aging that manifests early in childhood and causes premature death.

Progeria is caused by a sporadic mutation in the LMNA gene that codes for a protein (lamin A) that provides the molecular scaffolding of cell nuclei. The defective protein leads to nuclear instability from cell division and early death of every body cell.

Symptoms and signs develop within 2 yr and include

  • Growth failure (eg, short stature, delayed tooth eruption)

  • Craniofacial abnormalities (eg, craniofacial disproportion, micrognathia, beaked nose, macrocephaly, large fontanelle)

  • Physical changes of aging (eg, wrinkled skin, balding, decreased range of motion of joints, tough skin that resembles scleroderma)

Diagnosis is usually obvious by appearance but must be distinguished from segmental progerias (eg, acrogeria, metageria) and other causes of growth failure. Median age at death is 12 yr; cause is coronary artery and cerebrovascular disease. Insulin resistance and atherosclerosis may develop. Of note is that other problems associated with normal aging (eg, increased cancer risk, degenerative arthritis) are not present.

There is no known treatment. Support groups are available.

Other progeroid syndromes

Premature aging is a feature of other rare progeroid syndromes.

Werner syndrome is premature aging after puberty with hair thinning and development of conditions of old age (eg, cataracts, diabetes, osteoporosis, atherosclerosis). Rothmund-Thomson syndrome is premature aging with increased susceptibility to cancer. Both are caused by gene mutations leading to defective RecQ DNA helicases, which normally repair DNA.

Cockayne syndrome is an autosomal recessive disease caused by mutation in the ERCC8 gene, which is important in DNA excision repair. Clinical features include severe growth failure, cachectic appearance, retinopathy, hypertension, renal failure, skin photosensitivity, and intellectual disability.

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome is a recessively inherited syndrome of aging causing death by 2 yr.

Other syndromes (eg, Down, Ehlers-Danlos) occasionally have progeroid features.

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