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Bloom's Syndrome FREE

Joseph L. Rauh, MD; S. W. Soukup, PhD
[+] Author Affiliations

Received for publication Jan 11, 1968.

Reprint requests to Children's Hospital Research Foundation, Elland Avenue and Bethesda, Cincinnati 45229 (Dr. Soukup).


Am J Dis Child. 1968;116(4):409-413. doi:10.1001/archpedi.1968.02100020413012.
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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

REFERENCES

Bloom, D.:  Congenital Telangiectatic Erythema Resembling Lupus Erythematosis in Dwarfs , Amer J Dis Child 88:754-758 ( (Dec) ) 1954;.
Bloom, D.:  The Syndrome of Congenital Telangiectatic Erythema and Stunted Growth , J Pediat 68:103-113 ( (Jan) ) 1966;.
German, J.; Archibald, R.; and Bloom, D.:  Chromosome Breakage in a Rare and Probably Genetically Determined Syndrome of Man , Science 148:506 ( (April 23) ) 1965;.
Sawitsky, A.; Bloom, D.; and German, J.:  Chromosome Breakage and Acute Leukemia in Congenital Telangiectatic Erythema and Stunted Growth , Ann Intern Med 65:487-495 ( (Sept) ) 1966;.
Landau, J., et al:  Bloom's Syndrome , Arch Derm 94:687-694 ( (Dec) ) 1966;.
Schoen, E., and Shearn, M.A.:  Immunoglobulin Deficiency in Bloom's Syndrome , Amer J Dis Child 113:594-596 ( (May) ) 1967;.
Keutel, J.; Marghescu, S.; and Teller, W.:  Bloom-Syndrom: Bericht über einen Fall mit dermatohistologischen, endocrinologischen, immunologischen und cytogenetischen Untersuchungen , Z Kinderheilk 101:165-180 ( (Oct 5) ) 1967;.
West, C.D.; Hinrichs, V.; and Hinkle, N.H.:  Qualitative Determination of the Serum Globulins, B2a and B2m by Immunoelectrophoretic Analysis , J Lab Clin Med 58:137-148 ( (July) ) 1961;.
Stiehn, E.R., and Fudenberg, H.H.:  Serum Levels of Immune Globulins in Health and Disease , Pediatrics 37:715-727 ( (May) ) 1966;.
West, C.D.; Hong, R.; and Holland, N.H.:  Immunoglobulin Levels for the Newborn Period to Adulthood and in Immunoglobulin Deficiency States , J Clin Invest 41:2054-2064 ( (Nov) ) 1962;.
Moorhead, P.S., et al:  Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exper Cell Res 20:613-616 ( (Sept) ) 1960;.
Hsu, T.C., and Kellogg, D.S.:  Primary Cultivation and Continuous Propagation In Vitro of Tissues From Small Biopsy Specimens , J Nat Cancer Inst 25:221-235 ( (Aug) ) 1960;.
Chicago Conference: Standardization in Human Cytogenetics, Birth Defects , New York: The National Foundation, Original Article Series 2, vol 2, 1966;.
Page, A.R.; Hansen, A.E.; and Good, R.A.:  Occurrence of Leukemia and Lymphoma in Patients With Agammaglobulinemia , Blood 21:197-206 ( (Feb) ) 1963;.
Miller, R.W.:  Relation Between Cancer and Congenital Defects in Man , New Eng J Med 275: 87-93 ( (July 14) ) 1966;.
ten Bensel, R.W.; Stadlan, E.M.; and Krivit, W.:  The Development of Malignancy in the Course of the Aldrich Syndrome , J Pediat 68:761-767 ( (May) ) 1966;.
Eisen, A.H., et al:  Immunologic Deficiency in Ataxia-Telangiectasia , New Eng J Med 272:18-22 ( (Jan) ) 1965;.
German, J., and Grippa, L.P.:  Chromosome Breakage in Diploid Cell Lines from Bloom's Syndrome and Fanconi's Anemia , Ann Genet 9:143-154 ( (Nov) ) 1966;.
Swift, M.R., and Hirschhorn, K.:  Fanconi's Anemia, Inherited Susceptibility to Chromosome Breakage in Various Tissues , Ann Intern Med 65: 496-503 ( (Sept) ) 1966;.
de Grouchy, J.:  Genetic Diseases, Chromosome Rearrangements and Malignancy , Ann Intern Med 65:603-606 ( (Sept) ) 1966;.
Schmidt, W.:  Familial Constitional Panmyelocytopathy, Fanconi's Anemia , Seminars Hemat 4: 241-249 ( (July) ) 1697;.

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References

Bloom, D.:  Congenital Telangiectatic Erythema Resembling Lupus Erythematosis in Dwarfs , Amer J Dis Child 88:754-758 ( (Dec) ) 1954;.
Bloom, D.:  The Syndrome of Congenital Telangiectatic Erythema and Stunted Growth , J Pediat 68:103-113 ( (Jan) ) 1966;.
German, J.; Archibald, R.; and Bloom, D.:  Chromosome Breakage in a Rare and Probably Genetically Determined Syndrome of Man , Science 148:506 ( (April 23) ) 1965;.
Sawitsky, A.; Bloom, D.; and German, J.:  Chromosome Breakage and Acute Leukemia in Congenital Telangiectatic Erythema and Stunted Growth , Ann Intern Med 65:487-495 ( (Sept) ) 1966;.
Landau, J., et al:  Bloom's Syndrome , Arch Derm 94:687-694 ( (Dec) ) 1966;.
Schoen, E., and Shearn, M.A.:  Immunoglobulin Deficiency in Bloom's Syndrome , Amer J Dis Child 113:594-596 ( (May) ) 1967;.
Keutel, J.; Marghescu, S.; and Teller, W.:  Bloom-Syndrom: Bericht über einen Fall mit dermatohistologischen, endocrinologischen, immunologischen und cytogenetischen Untersuchungen , Z Kinderheilk 101:165-180 ( (Oct 5) ) 1967;.
West, C.D.; Hinrichs, V.; and Hinkle, N.H.:  Qualitative Determination of the Serum Globulins, B2a and B2m by Immunoelectrophoretic Analysis , J Lab Clin Med 58:137-148 ( (July) ) 1961;.
Stiehn, E.R., and Fudenberg, H.H.:  Serum Levels of Immune Globulins in Health and Disease , Pediatrics 37:715-727 ( (May) ) 1966;.
West, C.D.; Hong, R.; and Holland, N.H.:  Immunoglobulin Levels for the Newborn Period to Adulthood and in Immunoglobulin Deficiency States , J Clin Invest 41:2054-2064 ( (Nov) ) 1962;.
Moorhead, P.S., et al:  Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exper Cell Res 20:613-616 ( (Sept) ) 1960;.
Hsu, T.C., and Kellogg, D.S.:  Primary Cultivation and Continuous Propagation In Vitro of Tissues From Small Biopsy Specimens , J Nat Cancer Inst 25:221-235 ( (Aug) ) 1960;.
Chicago Conference: Standardization in Human Cytogenetics, Birth Defects , New York: The National Foundation, Original Article Series 2, vol 2, 1966;.
Page, A.R.; Hansen, A.E.; and Good, R.A.:  Occurrence of Leukemia and Lymphoma in Patients With Agammaglobulinemia , Blood 21:197-206 ( (Feb) ) 1963;.
Miller, R.W.:  Relation Between Cancer and Congenital Defects in Man , New Eng J Med 275: 87-93 ( (July 14) ) 1966;.
ten Bensel, R.W.; Stadlan, E.M.; and Krivit, W.:  The Development of Malignancy in the Course of the Aldrich Syndrome , J Pediat 68:761-767 ( (May) ) 1966;.
Eisen, A.H., et al:  Immunologic Deficiency in Ataxia-Telangiectasia , New Eng J Med 272:18-22 ( (Jan) ) 1965;.
German, J., and Grippa, L.P.:  Chromosome Breakage in Diploid Cell Lines from Bloom's Syndrome and Fanconi's Anemia , Ann Genet 9:143-154 ( (Nov) ) 1966;.
Swift, M.R., and Hirschhorn, K.:  Fanconi's Anemia, Inherited Susceptibility to Chromosome Breakage in Various Tissues , Ann Intern Med 65: 496-503 ( (Sept) ) 1966;.
de Grouchy, J.:  Genetic Diseases, Chromosome Rearrangements and Malignancy , Ann Intern Med 65:603-606 ( (Sept) ) 1966;.
Schmidt, W.:  Familial Constitional Panmyelocytopathy, Fanconi's Anemia , Seminars Hemat 4: 241-249 ( (July) ) 1697;.

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