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Hutchinson-Gilford progeria syndrome: a rare premature ageing syndrome

Authors :
Iti Varshney
Mohammad Adil
Syed Suhail Amin
Mohd Mohtashim
Annu Priya
Mahtab Alam
Source :
Przegląd Dermatologiczny, Vol 107, Iss 2, Pp 179-183 (2020)
Publication Year :
2020
Publisher :
Termedia Publishing House, 2020.

Abstract

Hutchinson-Gilford progeria syndrome is an extremely rare genetic disorder characterized by premature ageing involving the skin, bones, heart, and blood vessels. The incidence is 1 in several million births. It occurs sporadically and is probably an autosomal dominant syndrome. The diagnosis is essentially clinical and the manifestations become more evident from the first year of life. We report a case of a seven-month- 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, stunted growth and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. This interesting case is reported for its rarity.

Details

Language :
English, Polish
ISSN :
00332526 and 20849893
Volume :
107
Issue :
2
Database :
Directory of Open Access Journals
Journal :
Przegląd Dermatologiczny
Publication Type :
Academic Journal
Accession number :
edsdoj.981657b82b6546849b82dfb67aba466e
Document Type :
article
Full Text :
https://doi.org/10.5114/dr.2020.96361