BLOOM has described a rare syndrome characterized by congenital telangiectatic erythema, sun sensitivity, and stunted growth.1,2 Additional features, reported in some cases, have included a familial incidence, chromosomal breakage, immunoglobulin deficiency, and the development of neoplasia.2-7
A girl, previously unreported, is described here. The clinical features, immunoglobulin findings, and cytogenetic changes closely resemble patients already reported. In addition, an experimental skin lesion was produced by exposure to artificial ultraviolet light.
Report of a Case
A 3-year-old white girl has been followed at the University of Cincinnati Medical Center since birth. She was born Oct 6, 1964, after a fullterm pregnancy (40 weeks, menstrual age). The mother had four pregnancies. The first ended in a spontaneous abortion at 4 months. The second and fourth resulted in siblings of normal birth weight, a girl now 6 and a boy now 2 years of age. During the third pregnancy, that with
Rauh JL, Soukup SW. Bloom's Syndrome. Am J Dis Child. 1968;116(4):409-413. doi:10.1001/archpedi.1968.02100020413012