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Hutchinson-Gilford progeria syndrome
Uma Shankar Agarwal1, S Sitaraman, Sharad Mehta
1Department of Dermatology, SMS Medical College, Jaipur, India. drusag@gmail.com
Insights
Progeria is a rare genetic disorder causing premature aging. This case report details a 4-year-old boy with typical progeria symptoms, highlighting the condition's rarity.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Progeria, a rare genetic disorder, leads to accelerated aging in children.
- It affects multiple organ systems, including skin, bones, and cardiovascular system.
Observation:
- A 4-year-old boy presented with classic clinical features of progeria.
- Manifestations included characteristic facial features, prominent veins, hair loss, and stunted growth.
Findings:
- The patient exhibited a senile appearance and sclerodermatous skin changes.
- These findings are consistent with established diagnostic criteria for Hutchinson-Gilford Progeria Syndrome.
Implications:
- This case underscores the importance of early recognition of progeria.
- Reporting rare cases aids in understanding the spectrum and progression of this disorder.
Abstract:
Progeria is a rare genetic disorder characterized by premature aging, involving the skin, bones, heart, and blood vessels. We report a 4-year-old boy who presented with clinical manifestations of progeria. He had characteristic facies, prominent eyes, scalp and leg veins, senile look, loss of scalp hair, eyebrows and eyelashes, stunted growth, and sclerodermatous changes. The present case is reported due to its rarity.
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