Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Bloom's Syndrome: The Syndrome of Telangiectatic Erythema and Growth Retardation

Bloom's Syndrome: The Syndrome of Telangiectatic Erythema and Growth Retardation Abstract Bloom's syndrome is a genodermatosis characterized by a telangiectatic erythema of the face beginning in infancy, sensitivity to sunlight, small stature, and a low birth weight after a full-term gestation. A structural chromosome abnormality and an increased incidence of leukemia are associated. A classical example of this syndrome is presented in a patient who also exhibited low yA and γM levels in the serum. Bloom's syndrome is compared with four other syndromes that have some similarity to it: Rothmund-Thomson syndrome, Cockayne's syndrome, ataxiatelangiectasia, and dyskeratosis congenita. These syndromes may be unrelated or may represent variants of the same underlying condition. References 1. Bloom, D.: Congenital Telangiectatic Erythema Resembling Lupus Erythematosus in Dwarfs , Amer J Dis Child 88:754-758, 1954. 2. Hillman, D.A.; Crawford, J.D.; and Talbot, N.B.: Observations on the Etiology of Dwarfism in Congenital Telangiectatic Erythema , Pediatrics 20:268-271, 1957. 3. Brunsting, L.A., et al: Congenital Telangiectasia of the Face: Ichthyosiform Erythroderma Mild Pituitary Dwarfism (Levi-Lorain type) , Arch Derm 75:771, 1957.Crossref 4. Lewis, B.L., in discussion, Brunsting, L.A., et al: Congenital Telangiectasia of the Face: Ichthyosiform Erythroderma Mild Pituitary Dwarfism , Arch Derm 75:771, 1957. 5. Katzenellenbogen, I., and Laron, Z.: A Contribution to Bloom's Syndrome , Arch Derm 82:609-616, 1960.Crossref 6. Fitzpatrick, T.B.: Congenital Telangiectatic Erythema Resembling Lupus Erythematosus in Dwarfs , Arch Derm 87:499-500, 1963. 7. Szalay, G.C.: Dwarfism With Skin Manifestations , J Pediat 62:686-695, 1963.Crossref 8. Wolf, J.: Congenital Telangiectatic Erythema Resembling Lupus Erythematosus in Dwarfs: Bloom's Syndrome , Arch Derm 87:764, 1963.Crossref 9. Bloom, D.: The Syndrome of Congenital Telangiectatic Erythema and Stunted Growth , J Pediat 68:103-113, 1966.Crossref 10. Stritzler, C., and Stritzler, R.: Congenital Telangiectatic Erythema in a Dwarf; Bloom's Syndrome: A 15-Year Follow-Up , Arch Derm 93:775, 1966.Crossref 11. Gorlin, R.J., and Pindborg, J.J.: Syndromes of the Head and Neck , New York: McGraw-Hill Book Co., Inc., 1964. 12. Reed, W.B., et al: Cutaneous Manifestations of Ataxia-Telangiectasia , JAMA 195:746-753, 1966.Crossref 13. Silver, H.K.: Rothmund-Thomson Syndrome: An Oculocutaneous Disorder , Amer J Dis Child 111:182-190, 1966. 14. Rook, A.; Davis, R.; and Stevanovic, D.: Poikiloderma congenitale: Rothmund-Thomson syndrome , Acta Dermatovener 39:392-420, 1959. 15. German, J.; Archibald, R.; and Bloom, D.: Chromosomal Breakage in a Rare and Probably Genetically Determined Syndrome of Man , Science 148:506-507, 1965.Crossref 16. Sawitsky, A.; Bloom, D.; and German, J.: Chromosomal Breakage and Leukemia in Congenital Telangiectatic Erythema With Stunted Growth, abstracted , Blood 26:867, 1965. 17. Rimington, C., and Cripps, D.J.: Biochemical and Fluorescence-microscopy Screening-tests for Erythropoietic Protoporphyria , Lancet 1:624-626, 1965.Crossref 18. Wilkins, L.: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , ed 3, Springfield, Ill: Charles C Thomas, Publisher, 1965. 19. Holt, L.E., Jr.; McIntosh, R.; and Barnett, H.L.: Pediatrics , ed 13, New York: Appleton-Century-Crofts, 1962, p 1331. 20. Moorhead, P.S., et al: Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exp Cell Res 20:613-616, 1960.Crossref 21. Norman, A., et al: Chromosome Aberrations in Radiation Workers , Radiat Res 23:282-289, 1964.Crossref 22. Norman, A., et al: Elimination of Chromosome Aberrations From Human Lymphocytes , Blood 27:706-714, 1966. 23. Scheidegger, J.J.: Une micromethode de l'immunoelectrophorese , Int Arch Allerg 7:103-110, 1955.Crossref 24. Schwartz, R.M.: Serum Immunoglobulin Levels in Cystic Fibrosis , Amer J Dis Child 111:408-411, 1966. 25. Stiehm, E.R., and Fudenberg, H.H.: Serum Levels of Immune Globulins in Health and Disease: A Survey , Pediatrics 37:715-727, 1966. 26. Fitzpatrick, T.B., et al: Abnormal Reactions of Man to Light , Ann Rev Med 14:195-214, 1963.Crossref 27. Rimoin, D.L.; Merimee, T.J.; and McKusick, V.A.: Growth-Hormone Deficiency in Man: An Isolated Recessively Inherited Defect , Science 152:1635-1637, 1966.Crossref 28. Kogut, M.D.; Kaplan, S.A.; and Shimizu, C.S.: Growth Retardation: Use of Sulfation Factor as a Bioassay for Growth Hormone , Pediatrics 31:538-551, 1963. 29. Grumbach, M.M.: Growth Hormone and Growth , Pediatrics 37:245-248, 1966. 30. Silverman, W.A., and Sinclair, J.C.: Infants of Low Birth Weight , New Eng J Med 274:448-450, 1966.Crossref 31. Warkany, J.; Monroe, B.B.; and Sutherland, B.S.: Intrauterine Growth Retardation , Amer J Dis Child 102:249-279, 1961. 32. Ryan, T.J.; Boddington, M.M.; and Spriggs, A.I.: Chromosomal Abnormalities Produced by Folic Acid Antagonists , Brit J Derm 77:541-555, 1965.Crossref 33. Nichols, W.W.: Relationship of Viruses, Chromosomes, and Carcinogenesis , Hereditas 50:53-80, 1963.Crossref 34. Paton, G.R.; Jacobs, J.P.; and Perkins, F.T.: Chromosome Changes in Human Diploid Cell Cultures Infected with Mycoplasma , Nature (London) 207:43-45, 1965.Crossref 35. Bloom, G.E., et al: Chromosome Abnormalities in Constitutional Aplastic Anemia , New Eng J Med 274:8-14, 1966.Crossref 36. Schmid, W., et al: Chromosomenbrüchigkeit bei der familiären Panmyelopathie (Typus Fanconi) , Schweiz Med Wschr 95:1461-1464, 1965. 37. Kiossoglou, K.A., and Mitus, W.J.: Cytogenetic Studies in Pernicious Anemia, Megaloblastosis and DiGuglielmo Syndrome , abstracted, Clin Res 12:217, 1964. 38. Kiossoglou, K.A.; Mitus, W.J.; and Dameshek, W.: Chromosomal Aberrations in Acute Leukemia , Blood 26:610-641, 1965. 39. McAllister, R.M.: On the Role of Viruses in Human Cancer , J Pediat 69:175-178, 1966.Crossref 40. Miller, R.W.: Relation Between Cancer and Congenital Defects in Man , New Eng J Med 275:87-93, 1966.Crossref 41. Giedion, A., and Scheidegger, J.J.: Kongenitale Immunoparese bei Fehlen spezifischer B-Globuline und quantitativ normalen γ-Globulinen , Helv Paediat Acta 12:241-259, 1957. 42. Barandun, S.; Cottier, H.; and Hassig, A.: " New Aspects of Agammaglobulinemia and Antibody Deficiency Syndrome ," in Grabar, P., and Meischer, P. (eds.): Immunopathology: First International Symposium , Basel: Benno Schwabe & Co., 1959, pp 60-69. 43. Taylor, W.B.: Rothmund's Syndrome-Thomson's Syndrome , Arch Derm 75:236-244, 1957.Crossref 44. Blinstrub, R.S.; Lehman, R.; and Sternberg, T.H.: Poikiloderma Congenitale , Arch Derm 89:659-664, 1964.Crossref 45. Macdonald, W.B.; Fitch, K.D.; and Lewis, I.C.: Cockayne's Syndrome , Pediatrics 25:997-1007, 1960. 46. Windmiller, J.; Whalley, P.J.; and Fink, C.W.: Cockayne's Syndrome With Chromosomal Analysis , Amer J Dis Child 105:204-208, 1963. 47. Paddison, R.M., et al: Cockayne's Syndrome , Derm Trop 2:195-203, 1963. 48. Boder, E., and Sedgwick, R.P.: Ataxiatelangiectasia: A Review of 110 Cases , Little Club Clin Develop Med 8:110-118, 1963. 49. Karpati, G., et al: Ataxia-telangiectasia , Amer J Dis Child 110:51-63, 1965.Crossref 50. Eisen, A.H., et al: Immunologic Deficiency in Ataxia-telangiectasia , New Eng J Med 272:18-22, 1965.Crossref 51. Cole, H.N.; Cole, H.N., Jr.; and Lascheid, W.P.: Dyskeratosis Congenita , Arch Derm 76:712-719, 1957.Crossref 52. Sorrow, J.M., Jr., and Hitch, J.M.: Dyskeratosis Congenita , Arch Derm 88:340-347, 1963.Crossref 53. Milgrom, H.; Stoll, H.L., Jr.; and Crissey, J.T.: Dyskeratosis Congenita , Arch Derm 89:344-349, 1964.Crossref 54. Bryan, H.G., and Nixon, R.K.: Dyskeratosis Congenita , JAMA 192:203-208, 1965.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Bloom's Syndrome: The Syndrome of Telangiectatic Erythema and Growth Retardation

Download PDF
8 pages

Loading next page...
 
/lp/american-medical-association/bloom-s-syndrome-the-syndrome-of-telangiectatic-erythema-and-growth-WQJM8MjQBz

References (60)

Publisher
American Medical Association
Copyright
Copyright © 1966 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1966.01600300011003
Publisher site
See Article on Publisher Site

Abstract

Abstract Bloom's syndrome is a genodermatosis characterized by a telangiectatic erythema of the face beginning in infancy, sensitivity to sunlight, small stature, and a low birth weight after a full-term gestation. A structural chromosome abnormality and an increased incidence of leukemia are associated. A classical example of this syndrome is presented in a patient who also exhibited low yA and γM levels in the serum. Bloom's syndrome is compared with four other syndromes that have some similarity to it: Rothmund-Thomson syndrome, Cockayne's syndrome, ataxiatelangiectasia, and dyskeratosis congenita. These syndromes may be unrelated or may represent variants of the same underlying condition. References 1. Bloom, D.: Congenital Telangiectatic Erythema Resembling Lupus Erythematosus in Dwarfs , Amer J Dis Child 88:754-758, 1954. 2. Hillman, D.A.; Crawford, J.D.; and Talbot, N.B.: Observations on the Etiology of Dwarfism in Congenital Telangiectatic Erythema , Pediatrics 20:268-271, 1957. 3. Brunsting, L.A., et al: Congenital Telangiectasia of the Face: Ichthyosiform Erythroderma Mild Pituitary Dwarfism (Levi-Lorain type) , Arch Derm 75:771, 1957.Crossref 4. Lewis, B.L., in discussion, Brunsting, L.A., et al: Congenital Telangiectasia of the Face: Ichthyosiform Erythroderma Mild Pituitary Dwarfism , Arch Derm 75:771, 1957. 5. Katzenellenbogen, I., and Laron, Z.: A Contribution to Bloom's Syndrome , Arch Derm 82:609-616, 1960.Crossref 6. Fitzpatrick, T.B.: Congenital Telangiectatic Erythema Resembling Lupus Erythematosus in Dwarfs , Arch Derm 87:499-500, 1963. 7. Szalay, G.C.: Dwarfism With Skin Manifestations , J Pediat 62:686-695, 1963.Crossref 8. Wolf, J.: Congenital Telangiectatic Erythema Resembling Lupus Erythematosus in Dwarfs: Bloom's Syndrome , Arch Derm 87:764, 1963.Crossref 9. Bloom, D.: The Syndrome of Congenital Telangiectatic Erythema and Stunted Growth , J Pediat 68:103-113, 1966.Crossref 10. Stritzler, C., and Stritzler, R.: Congenital Telangiectatic Erythema in a Dwarf; Bloom's Syndrome: A 15-Year Follow-Up , Arch Derm 93:775, 1966.Crossref 11. Gorlin, R.J., and Pindborg, J.J.: Syndromes of the Head and Neck , New York: McGraw-Hill Book Co., Inc., 1964. 12. Reed, W.B., et al: Cutaneous Manifestations of Ataxia-Telangiectasia , JAMA 195:746-753, 1966.Crossref 13. Silver, H.K.: Rothmund-Thomson Syndrome: An Oculocutaneous Disorder , Amer J Dis Child 111:182-190, 1966. 14. Rook, A.; Davis, R.; and Stevanovic, D.: Poikiloderma congenitale: Rothmund-Thomson syndrome , Acta Dermatovener 39:392-420, 1959. 15. German, J.; Archibald, R.; and Bloom, D.: Chromosomal Breakage in a Rare and Probably Genetically Determined Syndrome of Man , Science 148:506-507, 1965.Crossref 16. Sawitsky, A.; Bloom, D.; and German, J.: Chromosomal Breakage and Leukemia in Congenital Telangiectatic Erythema With Stunted Growth, abstracted , Blood 26:867, 1965. 17. Rimington, C., and Cripps, D.J.: Biochemical and Fluorescence-microscopy Screening-tests for Erythropoietic Protoporphyria , Lancet 1:624-626, 1965.Crossref 18. Wilkins, L.: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , ed 3, Springfield, Ill: Charles C Thomas, Publisher, 1965. 19. Holt, L.E., Jr.; McIntosh, R.; and Barnett, H.L.: Pediatrics , ed 13, New York: Appleton-Century-Crofts, 1962, p 1331. 20. Moorhead, P.S., et al: Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exp Cell Res 20:613-616, 1960.Crossref 21. Norman, A., et al: Chromosome Aberrations in Radiation Workers , Radiat Res 23:282-289, 1964.Crossref 22. Norman, A., et al: Elimination of Chromosome Aberrations From Human Lymphocytes , Blood 27:706-714, 1966. 23. Scheidegger, J.J.: Une micromethode de l'immunoelectrophorese , Int Arch Allerg 7:103-110, 1955.Crossref 24. Schwartz, R.M.: Serum Immunoglobulin Levels in Cystic Fibrosis , Amer J Dis Child 111:408-411, 1966. 25. Stiehm, E.R., and Fudenberg, H.H.: Serum Levels of Immune Globulins in Health and Disease: A Survey , Pediatrics 37:715-727, 1966. 26. Fitzpatrick, T.B., et al: Abnormal Reactions of Man to Light , Ann Rev Med 14:195-214, 1963.Crossref 27. Rimoin, D.L.; Merimee, T.J.; and McKusick, V.A.: Growth-Hormone Deficiency in Man: An Isolated Recessively Inherited Defect , Science 152:1635-1637, 1966.Crossref 28. Kogut, M.D.; Kaplan, S.A.; and Shimizu, C.S.: Growth Retardation: Use of Sulfation Factor as a Bioassay for Growth Hormone , Pediatrics 31:538-551, 1963. 29. Grumbach, M.M.: Growth Hormone and Growth , Pediatrics 37:245-248, 1966. 30. Silverman, W.A., and Sinclair, J.C.: Infants of Low Birth Weight , New Eng J Med 274:448-450, 1966.Crossref 31. Warkany, J.; Monroe, B.B.; and Sutherland, B.S.: Intrauterine Growth Retardation , Amer J Dis Child 102:249-279, 1961. 32. Ryan, T.J.; Boddington, M.M.; and Spriggs, A.I.: Chromosomal Abnormalities Produced by Folic Acid Antagonists , Brit J Derm 77:541-555, 1965.Crossref 33. Nichols, W.W.: Relationship of Viruses, Chromosomes, and Carcinogenesis , Hereditas 50:53-80, 1963.Crossref 34. Paton, G.R.; Jacobs, J.P.; and Perkins, F.T.: Chromosome Changes in Human Diploid Cell Cultures Infected with Mycoplasma , Nature (London) 207:43-45, 1965.Crossref 35. Bloom, G.E., et al: Chromosome Abnormalities in Constitutional Aplastic Anemia , New Eng J Med 274:8-14, 1966.Crossref 36. Schmid, W., et al: Chromosomenbrüchigkeit bei der familiären Panmyelopathie (Typus Fanconi) , Schweiz Med Wschr 95:1461-1464, 1965. 37. Kiossoglou, K.A., and Mitus, W.J.: Cytogenetic Studies in Pernicious Anemia, Megaloblastosis and DiGuglielmo Syndrome , abstracted, Clin Res 12:217, 1964. 38. Kiossoglou, K.A.; Mitus, W.J.; and Dameshek, W.: Chromosomal Aberrations in Acute Leukemia , Blood 26:610-641, 1965. 39. McAllister, R.M.: On the Role of Viruses in Human Cancer , J Pediat 69:175-178, 1966.Crossref 40. Miller, R.W.: Relation Between Cancer and Congenital Defects in Man , New Eng J Med 275:87-93, 1966.Crossref 41. Giedion, A., and Scheidegger, J.J.: Kongenitale Immunoparese bei Fehlen spezifischer B-Globuline und quantitativ normalen γ-Globulinen , Helv Paediat Acta 12:241-259, 1957. 42. Barandun, S.; Cottier, H.; and Hassig, A.: " New Aspects of Agammaglobulinemia and Antibody Deficiency Syndrome ," in Grabar, P., and Meischer, P. (eds.): Immunopathology: First International Symposium , Basel: Benno Schwabe & Co., 1959, pp 60-69. 43. Taylor, W.B.: Rothmund's Syndrome-Thomson's Syndrome , Arch Derm 75:236-244, 1957.Crossref 44. Blinstrub, R.S.; Lehman, R.; and Sternberg, T.H.: Poikiloderma Congenitale , Arch Derm 89:659-664, 1964.Crossref 45. Macdonald, W.B.; Fitch, K.D.; and Lewis, I.C.: Cockayne's Syndrome , Pediatrics 25:997-1007, 1960. 46. Windmiller, J.; Whalley, P.J.; and Fink, C.W.: Cockayne's Syndrome With Chromosomal Analysis , Amer J Dis Child 105:204-208, 1963. 47. Paddison, R.M., et al: Cockayne's Syndrome , Derm Trop 2:195-203, 1963. 48. Boder, E., and Sedgwick, R.P.: Ataxiatelangiectasia: A Review of 110 Cases , Little Club Clin Develop Med 8:110-118, 1963. 49. Karpati, G., et al: Ataxia-telangiectasia , Amer J Dis Child 110:51-63, 1965.Crossref 50. Eisen, A.H., et al: Immunologic Deficiency in Ataxia-telangiectasia , New Eng J Med 272:18-22, 1965.Crossref 51. Cole, H.N.; Cole, H.N., Jr.; and Lascheid, W.P.: Dyskeratosis Congenita , Arch Derm 76:712-719, 1957.Crossref 52. Sorrow, J.M., Jr., and Hitch, J.M.: Dyskeratosis Congenita , Arch Derm 88:340-347, 1963.Crossref 53. Milgrom, H.; Stoll, H.L., Jr.; and Crissey, J.T.: Dyskeratosis Congenita , Arch Derm 89:344-349, 1964.Crossref 54. Bryan, H.G., and Nixon, R.K.: Dyskeratosis Congenita , JAMA 192:203-208, 1965.Crossref

Journal

Archives of Dermatology – American Medical Association

Published: Dec 1, 1966

There are no references for this article.