Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case

This literature review on Progeria, or Hutchinson-Gilford Syndrome, highlighted its characterization as a rare laminopathy causing premature aging with significant impacts on the skin, bones, and cardiovascular system. The disease's pathogenesis involved mutations in the LMNA gene, affecting nuclear membrane morphology and various cellular processes. Key symptoms included alopecia, skin lesions, lipodystrophy, and cardiovascular issues like early heart attacks and strokes. Management focused on preventing cardiovascular complications and improving quality of life, with therapies such as farnesyltransferase inhibitors and vitamin D3 being explored. The review included a clinical case of a girl diagnosed with Progeria, confirmed through genetic sequencing.