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Hutchinson-Gilford progeria syndrome: a rare premature ageing syndrome
- 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.
- Subjects :
- premature ageing syndrome
progeria
ageing.
Medicine
Dermatology
RL1-803
Subjects
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