Authors
Abstract
Hutchinson-Gilford progeria syndrome is an extremely rare condition with features of premature and accelerated aging. The pattern of inheritance is unclear, although autosomal dominant mutations have been proposed. The disease presentation is usually in infancy and early childhood with a characteristic phenotype of short stature, abnormal skin and nail, beaked nose, loss of subcutaneous fat, failure to thrive, varying degrees of alopecia and premature graying of hair and prominent scalp veins. Laboratory and pathological findings are not characteristic and death results from cardiovascular abnormalities usually in the second decade of life in the majority of cases. We report a four-year-old boy who came to our hospital with history of mottled pigmentation of skin and abnormal facies. Due to clinical features and pathological data, the case was diagnosed as Hutchinson gilfored progeria syndrome.
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