Chromosomal Breakage and Acute Leukemia in Congenital Telangiectatic Erythema and Stunted Growth

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Abstract
Of the 23 recognized patients with congenital telangiectatic erythema and stunted growth, a syndrome first described in 1954, only 3 have died, in each instance from acute leukemia. In 1 of these, serial chromosomal studies of nucleated blood cells in vitro were made for over 2-1/2 years before clinical leukemia developed, and on each occasion cells with broken, rearranged chromosomes were abundant. The expectancy of malignant neoplasia in this disorder was not established. Careful hematological surveillance of affected individuals is indicated. The association of chromosomal breakage and leukemia in this rare, probably genetically determined disorder, suggests that its further investigation at the biochemical level may elucidate genetic factors of importance in malignant neoplasia.