Advertisement

Congenital and Developmental Abnormalities of the Breast

  • Kristin BaumannEmail author
  • Telja Pursche
Chapter

Abstract

Congenital abnormities of the breast rarely occur. They can be split into three main groups: (1) excessive development within the field of the embryonic milk line, containing polythelia (development of an additional mammilla) and polymastia (development of additional breasts); (2) underdevelopment of the mammary corpus, including amastia/athelia (absence of the mamma/nipple), Poland syndrome, tubular breast, and micromastia (hypoplasia of the mamma); and (3) malformation of mammilla and areola (e.g., inverted nipples). Depending on the cause, reconstructive intervention may help the affected patients to improve self-esteem and quality of life.

Keywords

Malformation Abnormalities Breast Congenital Development Reconstruction 

References

  1. 1.
    Hughes ESR. The development of the mammary gland. Ann R Coll Surg Eng. 1949;6:99–119.Google Scholar
  2. 2.
    Sternlicht MD. Key stages in mammary gland development: the cues that regulate ductal branching morphogenesis. Breast Cancer Res. 2006;8(1):201.CrossRefPubMedGoogle Scholar
  3. 3.
    Robinson GW, Karpf AB, Kratochwil K. Regulation of mammary gland development by tissue interaction. J Mammary Gland Biol Neoplasia. 1999;4(1):9–19.CrossRefPubMedGoogle Scholar
  4. 4.
    Turashvili GBJ, Bouchal J, Burkadze G, Kolar Z. Mammary gland development and cancer. Cesk Patol. 2005;41(3):94–101.PubMedGoogle Scholar
  5. 5.
    Tobon H, Salazar H. Ultrastructure of the human mammary gland. I. Development of the fetal gland throughout gestation. J Clin Endocrinol Metab. 1974;39(3):443–56.CrossRefPubMedGoogle Scholar
  6. 6.
    Osin PP, Anbazhagan R, Bartkova J, Nathan B, Gusterson BA. Breast development gives insights into breast disease. Histopathology. 1998;33(3):275–83.CrossRefPubMedGoogle Scholar
  7. 7.
    Naccarato AG, Viacava P, Vignati S, Fanelli G, Bonadio AG, Montruccoli G, Bevilacqua G. Bio-morphological events in the development of the human female mammary gland from fetal age to puberty. Virchows Arch. 2000;436(5):431–8.CrossRefPubMedGoogle Scholar
  8. 8.
    Jayasinghe YCR, Cha R, Horn-Ommen J, O’Brien P, Simmons PS. Establishment of normative data for the amount of breast tissue present in healthy children up to two years of age. J Pediatr Adolesc Gynecol. 2010;23(5):305–11.CrossRefPubMedGoogle Scholar
  9. 9.
    McKiernan JF, Hull D. Breast development in the newborn. Arch Dis Child. 1981;56(7):525–9.CrossRefPubMedPubMedCentralGoogle Scholar
  10. 10.
    Howard BA, Gusterson BA. Human breast development. J Mammary Gland Biol Neoplasia. 2000;5.Google Scholar
  11. 11.
    Diamantopoulos S, Bao Y. Gynecomastia and premature thelarche: a guide for practitioners. Pediatr Rev. 2007;28:e57–68.CrossRefPubMedGoogle Scholar
  12. 12.
    Sadove AM, van Aalst JA. Congenital and acquired pediatric breast anomalies: a review of 20 years’ experience. Plast Reconstr Surg. 2005;115(4):1039–50.CrossRefPubMedGoogle Scholar
  13. 13.
    West KW, Rescoria FJ, Scherer LR, Grosfeld JL. Diagnosis and treatment of symptomatic breast masses in the pediatric population. J Pediatr Surg. 1995;30:182–7.CrossRefPubMedGoogle Scholar
  14. 14.
    Volta C, Bernasconi S, Cisternino M, et al. Isolated premature thelarche and thelarche variant: clinical and auxological follow-up of 119 girls. J Endocrinol Invest. 1998;21:180–3.CrossRefPubMedGoogle Scholar
  15. 15.
    Verrotti A, Ferrari M, Morgese G, Chiarelli F. Premature thelarche: a long-term follow-up. Gynecol Endocrinol. 1996;10:241–7.CrossRefPubMedGoogle Scholar
  16. 16.
    Codner E, Román R. Premature thelarche from phenotype to genotype. Pediatr Endocrinol Rev. 2008;5(3):760–5.Google Scholar
  17. 17.
    Wiseman BS, Werb Z. Stromal effects on mammary gland development and breast cancer. Science. 2002;296:1046–9.CrossRefPubMedPubMedCentralGoogle Scholar
  18. 18.
    Loukas M, Clarke P, Tubbs RS. Accessory breasts: a historical and current perspective. Am Surg. 2007;73:525–8.PubMedGoogle Scholar
  19. 19.
    Grossl NA. Supernumerary breast tissue: historical perspectives and clinical features. Southern Med J. 2000;93:29–32.CrossRefPubMedGoogle Scholar
  20. 20.
    Loughry CW, et al. Breast volume measurement of 598 women using biostereometric analysis. Ann Plast Surg. 1989;22(5):380–5.CrossRefPubMedGoogle Scholar
  21. 21.
    Rosen P. Abnormalities of mammary growth and development. Philadelphia, PA: Lippincott Williams & Wilkins; 2009, pp. 23–7.Google Scholar
  22. 22.
    Argenta LC, VanderKolk C, Friedman RJ, et al. Refinements in reconstruction of congenital breast deformities. Plast Reconstr Surg. 1985;76:73–80.CrossRefPubMedGoogle Scholar
  23. 23.
    Smith KJ, Palin WE, Katch V, et al. Surgical treatment of congenital breast asymmetry. Ann Plast Surg. 1986;17:92–101.CrossRefPubMedGoogle Scholar
  24. 24.
    Oakes MB, Quint EH, Smith YR, Cederna PS. Early, staged reconstruction in young women with severe breast asymmetry. J Pediatr Adolesc Gynecol. 2009;22(4):223–8.CrossRefPubMedGoogle Scholar
  25. 25.
    Caouette-Laberge L, Bortoluzzi PA. Correction of breast asymmetry in teenagers. Philadelphia, PA: Saunders; 2010, pp. 601–30.Google Scholar
  26. 26.
    Arca MJ, Caniano DA. Breast disorders in the adolescent patient. Adolesc Med. 2004;15:473–85.CrossRefGoogle Scholar
  27. 27.
    Ozsoy Z, Gozu A, Ozyigit MT, Genc B. Amazia with midface anomaly: case report. Aesthetic Plast Surg. 2007;31(4):392–4.CrossRefPubMedGoogle Scholar
  28. 28.
    Trier WC. Complete breast absence. Plast Reconstr Surg. 1965;36:431–9.CrossRefPubMedGoogle Scholar
  29. 29.
    Amesse L, Yen FF, Weisskopf B, Hertweck SP. Vaginal uterine agenesis associated with amastia in a phenotypic female with a de novo 46, XX, t(8;13) (q22.1;q32.1) translocation. Clin Genet. 1999;55:493–5.CrossRefPubMedGoogle Scholar
  30. 30.
    Breslau-Siderius EJ, Toonstra J, Baart JA, Koppeschaar HP, Maassen JA, Beemer FA. Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: a second case of the AREDYLD syndrome. Am J Med Genet. 1992;44:374–7.CrossRefPubMedGoogle Scholar
  31. 31.
    Clarkson P. Poland’s syndactyly. Guys Hosp Rep. 1962;111:335–46.PubMedGoogle Scholar
  32. 32.
    da Silva Freitas R, Tolazzi ARD, Martins VDM, et al. Poland’s syndrome: different clinical presentations and surgical reconstructions in 18 cases. Aesth Plast Surg. 2007;31:140–6.CrossRefGoogle Scholar
  33. 33.
    Marks MW, Argenta LC, Izenberg PH, et al. Management of the chest wall deformity in male patients with Poland’s syndrome. Plast Reconstr Surg. 1991;87:674–81.CrossRefPubMedGoogle Scholar
  34. 34.
    Poland A. Deficiency of the pectoral muscles. Guys Hosp Rep. 1841;6:191.Google Scholar
  35. 35.
    Borschel GH, Costantin DA, Cederna PS. Individualized implant-based reconstruction of Poland syndrome breast and soft tissue deformities. Ann Plast Surg. 2007;59:507–14.CrossRefPubMedGoogle Scholar
  36. 36.
    Fraser FC, Teebi AS, Walsh S, Pinky L. Poland sequence with dextrocardia: which comes first? Am J Med Genet. 1997;73:194–6.CrossRefPubMedGoogle Scholar
  37. 37.
    Spear SL, Namnoum JD et al. Breast reconstruction in patients with poland’s syndrom (Chapter 99). In: Surgery of the breast. 2nd ed. 2006, p. 1384.Google Scholar
  38. 38.
    Poullin P, Toussirot E, Schiano A, Serratrice G. Complete and dissociated forms of Poland’s syndrome (5 cases). Rev Rhum Mal Osteoartic. 1992;59(2):114–20.PubMedGoogle Scholar
  39. 39.
    Urschel HC, Byrd S, Sethi SM, et al. Poland’s syndrome: improved surgical management. Ann Thorac Surg. 1984;37:204–11.CrossRefPubMedGoogle Scholar
  40. 40.
    Pinsolle V, Chichery A, Grolleau J-L, Chavoin JP. Autologous fat injection in Poland’s syndrome. J Plast Reconstr Aesthetic Surg. 2008;61:784–91.CrossRefGoogle Scholar
  41. 41.
    Rees TD, Aston S. The tuberous breast. Clin Plast Surg. 1976;49:339–47.Google Scholar
  42. 42.
    Teimourian B, Adham MN. Surgical correction of the tuberous breast. Ann Plast Surg. 1983;10:190–3.CrossRefPubMedGoogle Scholar
  43. 43.
    von Heimburg D, Exner K, Kruft S, Lemperle G. The tuberous breast deformity: classification and treatment. Br J Plast Surg. 1996;49(6):339–45.CrossRefGoogle Scholar
  44. 44.
    Dinner MI, Dowden RV. The tubular/tuberous breast syndrome. Ann Plast Surg. 1987;19:414–20.Google Scholar
  45. 45.
    Elliott MP. A musculocutaneous transposition flap mammaplasty for correction of the tuberous breast. Ann Plast Surg. 1988;1987(201):53–7.Google Scholar
  46. 46.
    Puckett CL, Concannon MJ. Augmenting the narrow-based breast: the unfurling technique to prevent the double-bubble deformity. Aesthetic Plast Surg. 1990 Winter;14(1):15–9.Google Scholar
  47. 47.
    Ribeiro L, Canzi W, Buss A Jr, Accorsi A Jr. Tuberous breast: a new approach. Plast Reconstr Surg. 1998;101(1):42–50.CrossRefPubMedGoogle Scholar
  48. 48.
    Foustanos A, Zavrides H. Surgical reconstruction of tuberous breasts. Aesthetic Plast Surg. 2006;30:294–300.CrossRefPubMedGoogle Scholar
  49. 49.
    Mandrekas AD, Zambacos GJ, Anastasopoulos A, et al. Aesthetic reconstruction of the tuberous breast deformity. Plast Reconstr Surg. 2003;112:1099–108.CrossRefPubMedGoogle Scholar
  50. 50.
    Toranto IR. Two-stage correction of tuberous breasts. Plast Reconstr Surg. 1981;67:642–6.CrossRefPubMedGoogle Scholar
  51. 51.
    Schwager RG, Smith JW, Gray GF, Goulian D. Inversion of the human female nipple, with a simple method of treatment. Plast Reconstr Surg. 1974;54:564–9.CrossRefPubMedGoogle Scholar
  52. 52.
    Park HS, Yoon CH, Kim HJ. The prevalence of congenital inverted nipple. Aesthetic Plast Surg. 1999;23:144–6.CrossRefPubMedGoogle Scholar
  53. 53.
    Lee HB, Roh TS, Chung YK, et al. Correction of inverted nipple using strut reinforcement with deepithelialized triangular flaps. Plast Reconstr Surg. 1998;102:1253–8.CrossRefPubMedGoogle Scholar
  54. 54.
    Lorenzetti MH, Fryns JP. Inverted nipples in Robinow syndrome. Genet Couns. 1996;7:67–9.PubMedGoogle Scholar
  55. 55.
    Young G, Driscoll MC. Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome: case report and review of the literature. Am J Hematol. 1999;60:66–9.CrossRefPubMedGoogle Scholar
  56. 56.
    Crestinu J. The inverted nipple: a blind method of correction. Plast Reconstr Surg. 1987;79:127–30.CrossRefPubMedGoogle Scholar
  57. 57.
    Elsahy NI. An alternative operation for inverted nipple. Plast Reconstr Surg. 1976;57:438–91.CrossRefPubMedGoogle Scholar
  58. 58.
    Elsahy N. Correction of inverted nipples by strong suspension with areola based dermal flaps. Plast Reconstr Surg. 2009;123:1131–2.CrossRefPubMedGoogle Scholar
  59. 59.
    Teimourian B, Adham MN. Simple technique for correction of inverted nipple. Plast Reconstr Surg. 1980;65:504–6.CrossRefPubMedGoogle Scholar
  60. 60.
    Lee KY, Cho BC. Surgical correction of inverted nipples using the modified Namba or Teimourian technique. Plast Reconstr Surg. 2004;113:328–36 (discussion 337–28).Google Scholar
  61. 61.
    Jeong H-S, Lee H-K. Correction of inverted nipple using subcutaneous turn-over flaps to create a tent suspension-like effect (Rubino C, ed.). PLoS ONE. 2015;10(7):e0133588.CrossRefPubMedPubMedCentralGoogle Scholar
  62. 62.
    Ohlsén L, Ericsson O, Beausang-Linder M. Rapid, massive and unphysiological breast enlargement. Eur J Plast Surg 1996;19(6):307–13.Google Scholar
  63. 63.
    Baker SB, Burkey BA, Thronton P, LaRossa D. Juvenile gigantomastia: presentation of four cases and review of the literature. Ann Plast Surg. 2001;46:517–25.CrossRefPubMedGoogle Scholar
  64. 64.
    Barreto AU. Juvenile mammary hypertrophy. Plast Reconstr Surg. 1991;87(3):583–4.Google Scholar
  65. 65.
    Kupfer D, Dingman D, Broadbent R. Juvenile breast hypertrophy: report of a familial pattern and review of the literature. Plast Reconstr Surg. 1992;90(2):303–9.CrossRefPubMedGoogle Scholar
  66. 66.
    Sperling RL, Gold JJ. Use of an anti-estrogen after a reduction mammaplasty to prevent recurrence of virginal hypertrophy of breasts. Case report. Plast Reconstr Surg. 1973;52(4):439–42.CrossRefPubMedGoogle Scholar
  67. 67.
    Arscott GD, Craig HR, Gabay L. Failure of bromocriptine therapy to control juvenile mammary hypertrophy. Br J Plast Surg. 2001;54(8):720–3.CrossRefPubMedGoogle Scholar
  68. 68.
    Wolfswinkel EM, Lemaine V, Weathers WM, Chike-Obi CJ, Xue AS, Heller L. Hyperplastic breast anomalies in the female adolescent breast. Semin Plast Surg. 2013;27(1):49–55.CrossRefPubMedPubMedCentralGoogle Scholar
  69. 69.
    Kullander S. Effect of 2 br-alpha-ergocryptin (CB 154) on serum prolactin and the clinical picture in a case of progressive gigantomastia in pregnancy. Ann Chir Gynaecol. 1976;65:227–33.PubMedGoogle Scholar
  70. 70.
    Swelstad MR, Swelstad BB, Rao VK, Gutowski KA. Management of gestational gigantomastia. Plast Reconstr Surg. 2006;118:840–8.CrossRefPubMedGoogle Scholar
  71. 71.
    Gargan TJ, Goldwyn RM. Gigantomastia complicating pregnancy. Plast Reconstr Surg. 1987;80:121–4.CrossRefPubMedGoogle Scholar
  72. 72.
    Taylor PJ, Cumming DC, Corenblum B. Successful treatment of D-penicillamine-induced breast gigantism with danazol. Br Med J (Clin Res Ed). 1981;282:362–3.CrossRefGoogle Scholar
  73. 73.
    Narula HS, Carlson HE. Gynaecomastia–pathophysiology, diagnosis and treatment. Nat Rev Endocrinol. 2014;10(11):684–98.CrossRefPubMedGoogle Scholar
  74. 74.
    Lanitis S, Starren E, Read J. Surgical management of gynaecomastia: outcomes from our experience. The Breast. 2008;17(6):596–603.CrossRefPubMedGoogle Scholar
  75. 75.
    Braunstein G. Gynecomastia. N Engl J Med. 2007;357:1229–37.CrossRefPubMedGoogle Scholar
  76. 76.
    Böcker W, Denk H, Heitz PhU. Pathologie, 2. Auflage, 2001, 925.Google Scholar
  77. 77.
    Morcos RN, Kizy T. Gynecomastia. When is treatment indicated? J Fam Pract. 2012;61(12):719–25.PubMedGoogle Scholar
  78. 78.
    Nordt C, Divanta A. Gynecomastia in adolescents. Curr Opin Pediatr. 2008;20:375–82.CrossRefPubMedGoogle Scholar
  79. 79.
    Evans GF, Anthony T, Turnage RH, et al. The diagnostic accuracy of mammography in the evaluation of male breast disease. Am J Surg. 2001;181:96–100.CrossRefPubMedGoogle Scholar
  80. 80.
    Ting ACW, Chow LWC, Leung YF. Comparison of tamoxifen with danazol in the management of idiopathic gynecomastia. Am Surg. 2000;66:38–40.PubMedGoogle Scholar
  81. 81.
    Hanavadi S, Banerjee D, Monypenny IJ, Mansel RE. The role of tamoxifen in the management of gynaecomastia. Breast. 2006;15:276–80.CrossRefPubMedGoogle Scholar
  82. 82.
    Plourde PV, Reiter EO, Jou HC, et al. Safety and efficacy of anastrozole for the treatment of pubertal gynecomastia: a randomized, double-blind, placebo-controlled trial. J Clin Endocrinol Metab. 2004;89:4428–33.CrossRefPubMedGoogle Scholar
  83. 83.
    Rosenberg GJ. Gynecomastia: suction lipectomy as a contemporary solution. Plast Reconstr Surg. 1987;80(3):379–86.CrossRefPubMedGoogle Scholar
  84. 84.
    Voigt M, Walgenbach KJ, Andree C, Bannasch H, Looden Z, Stark GB. Minimally invasive surgical therapy of gynecomastia: liposuction and exeresis technique. Chirurg. 2001;72(10):1190–5.CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2016

Authors and Affiliations

  1. 1.Clinic for Gynaecology and ObstetricsUniversity Medical Centre Schleswig-Holstein Campus LübeckLübeckGermany

Personalised recommendations