Hutchinson Gilford Progeria Syndrome Presenting with Early Infantile Sclerodermatous Skin.

Introduction: Hutchinson Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by segmental childhood premature aging disorder caused by LMNA gene mutation. Children born with this condition are normal at birth but begin to thrive poorly and show evidence of accelerated aging within the first year characterized by hair loss, diminished subcutaneous fat, skeletal abnormalities and cardiovascular disease. They also develop typical facies with proptosis, thin beaked nose, thin lips, micrognathia and prominent ears. Death normally occurs around the age of 13 from heart attack or stroke. Case report: We reported a case of HGPS who first presented at day 45 of life with failure to thrive and thickened sclerodermatous skin. She was evaluated by a dermatologist but no concrete diagnosis was made. She was seen again at the age of 13 and physical examination showed findings consistent with HGPS. Results: Genetic testing showed a de novo LMNA p.Gly608Gly (C .1824C > T) mutation, which is associated with classic HGPS. Conclusion: A patient with classical HGPS who presents during early infancy or neonatal stage with scleromatous skin, should alert one to this diagnosis, especially if failure to thrive is also present. [ABSTRACT FROM AUTHOR]