Hutchinson – Gilford Progeria Syndrome: A Rare Case Report
VIEW PDF

Keywords

Hutchinson-Gilford syndrome
Progeria
Premature aging

How to Cite

Dr. Kajalkumari Jain, Dr. Ujjwala Shirsath, Dr. Ramesh B. Kothari, & Dr. Sunil Natha Mhaske. (2020). Hutchinson – Gilford Progeria Syndrome: A Rare Case Report. VIMS Health Science Journal , 7(2), 54-55. https://doi.org/10.46858/dvvpf.j.

Abstract

Hutchinson – Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a fourteen year old girl with clinical manifestations characteristic of this syndrome. She 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.

https://doi.org/10.46858/dvvpf.j.
VIEW PDF

References

Hutchinson J. Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet 1886;1:923.

Pollex RL, Hegele RA. Hutchinson – Gilford progeria syndrome. Clin Genet 2004;66:375-81.

Brown WT. Human mutations affecting aging – a review. Mech Ageing Dev 1979;9:325.

Gordon CM, Gordon LB, Snyder BD, Nazarian A, Quinn N, Huh S, et al. Hutchinson-Gilford progeria is a skeletal dysplasia. J Bone Miner Res 2011;26:1670-9.

Stehbens WE, Wakefi eld SJ, Gilbert-Barness E, Olson RE, Ackerman J. Histological and ultrastructural features of atherosclerosis in progeria. Cardiovasc Pathol 1999;8:29-39.

Ding SL, Shen CY. Model of human aging: Recent fi ndings on Werner’s and Hutchinson-Gilford progeria syndromes. Clin Interv Aging 2008;3:431-44.

DeBusk FL. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr 1972;80:697-724.

Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med 2008;358:592-604.

Hamer L, Kaplan F, Fallon M. The musculoskeletal manifestations of progeria. A literature review. Orthopedics 1988;11:763-9.

Badame AJ. Progeria. Arch Dermatol 1989;(4);125:540-544.

Downloads

Download data is not yet available.