Hutchinson – Gilford Progeria Syndrome: A Rare Case Report

Dr. Kajalkumari Jain; Dr. Ujjwala Shirsath; Dr. Ramesh B. Kothari; Dr. Sunil Natha Mhaske

doi:10.46858/dvvpf.j.

Authors

Dr. Kajalkumari Jain
Dr. Ujjwala Shirsath
Dr. Ramesh B. Kothari
Dr. Sunil Natha Mhaske

DOI:

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

Keywords:

Hutchinson-Gilford syndrome, Progeria, Premature aging

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.

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