Hutchinson-Gilford progeria syndrome is an extremely rare condition with features of premature and accelerated aging. the pattern of inheritance is unclear, although both autosomal recessive and autosomal dominant modes have been proposed. The children usually present in late infancy and early childhood with a characteristic phenotype of alopecia; short stature; abnormal skin, teeth, and nails; beaked nose; loss of subcutaneous fat; and failure to thrive. This condition has been reported on all inhabited continents and has been described in all major races. Laboratory findings note an increased urinary excretion of hyaluronic acid. Death results from cardiovascular abnormalities in the majority of cases and usually occurs in the second decade of life. There is no effective treatment. We report the pathologic changes noted at autopsy on a 20-year-old woman with classic features of Hutchinson-Gilford progeria syndrome.
This case presentation from a clinical pathology conference discussed diagnoses, and clinical aspects, pathological findings and diagnoses for a newborn with tachypnea, intercostal retracticus, and poor oxygen saturation.
Breast cancer is rare in adolescent females. Breast cancer metastatic to the products of conception is equally uncommon. We describe a 15-year-old girl who at 30 weeks of gestation was diagnosed with metastatic adenocarcinoma of probable breast origin. The placenta showed extensive intervillous disease. Metastatic disease within the intervillous space indicates hematogenous dissemination of cancer and a poor prognosis for the mother. The infant is almost always free of maternal disease unless there is villous invasion. Hormonal changes or immunotolerance by the mother may be involved in the pathogenesis. All placentas in which maternal malignancy is known or suspected should be examined grossly and microscopically.