Hutchinson-Gilford progeria syndrome

Hutchinson-Gilford progeria syndrome is an extremely rare, fatal genetic disorder of early childhood characterized by dramatically accelerated cellular aging and premature senescence

Hutchinson-Gilford progeria syndrome is an extremely rare, fatal genetic disorder of early childhood characterized by dramatically accelerated cellular aging and premature senescence Pathophysiologically, it is caused by sporadic de novo mutations in the *LMNA* gene that produce progerin, a truncated, permanently farnesylated toxic variant of lamin A that disrupts nuclear envelope integrity and genomic stability Clinically, affected pediatric patients appear typical at birth but progressively de...

Hutchinson-Gilford progeria syndrome is an extremely rare, fatal genetic disorder of early childhood characterized by dramatically accelerated cellular aging and premature senescence Pathophysiologically, it is caused by sporadic de novo mutations in the *LMNA* gene that produce progerin, a truncated, permanently farnesylated toxic variant of lamin A that disrupts nuclear envelope integrity and genomic stability Clinically, affected pediatric patients appear typical at birth but progressively de...

Pathophysiologically, it is caused by sporadic de novo mutations in the *LMNA* gene that produce progerin, a truncated, permanently farnesylated toxic variant of lamin A that disrupts nuclear envelope integrity and genomic stability

Clinically, affected pediatric patients appear typical at birth but progressively develop profound growth failure, generalized lipodystrophy, alopecia, sclerodermatous skin changes, craniofacial disproportion, and skeletal dysplasia while retaining normal cognitive function The condition's defining systemic morbidity is rapidly progressive, premature atherosclerosis and arteriolosclerosis, which typically lead to fatal myocardial infarction or stroke during the second decade of life

The condition's defining systemic morbidity is rapidly progressive, premature atherosclerosis and arteriolosclerosis, which typically lead to fatal myocardial infarction or stroke during the second decade of life