Hutchinson-Gilford syndrome: History, causes, phenotype and research advances

Hutchinson-Gilford Progeria Syndrome (HGPS) (Phenotype MIM number 176670) is an autosomal-dominant genetic disorder that leads to accelerated aging and often premature death caused by cardiovascular complications. HGPS origined abnormal Lamin A formation, directly a mutation in exon 11 of the LMNA gene. This syndrome characterized presence aging-associated symptoms, including lack subcutaneous fat, alopecia, growth retardation, skin pigmentation, joint contractures, osteoporosis, pathologies, due myocardial infarction strokes childhood. Aim this literature review was document history, symptomatology advances development treatment strategies for HGPS. Until now, clinical management has been largely based on manifestations prevention secondary complications, there still no cure disease. Although copious barriers remain be overcome before can developed, increasing understanding molecular mechanism disease will allow better designed future.