Vol. 13 No. 2 (2021): Archives of Public Health
Case Report

Association of Poland Syndrome and hypertrichosis in pubertal girl - Case report

OnlineFirst PDF
  • Marina Krstevska-Konstantinova,
  • Konstandina Kuzevska-Maneva,
  • Hristijan Nestorov,
  • Daniela Georgieva
Marina Krstevska-Konstantinova
University Clinic for Children's Diseases; Ss Cyril and Methodius University in Skopje, Faculty of Medicine, Republic of North Macedonia
Konstandina Kuzevska-Maneva
University Clinic for Children's Diseases; Ss Cyril and Methodius University in Skopje, Faculty of Medicine, Republic of North Macedonia
Hristijan Nestorov
University Clinic for Children's Diseases; Ss Cyril and Methodius University in Skopje, Faculty of Medicine, Republic of North Macedonia
Daniela Georgieva
University Clinic for Traumatology, Orthopedics, Anesthesiology, Reanimation and Intensive Care; Ss Cyril and Methodius in Skopje, Faculty of Medicine, Republic of North Macedonia
DOI: https://doi.org/10.3889/aph.2021.6003

Published 2021-11-20

Keywords

  • Poland syndrome,
  • hypertrichosis,
  • puberty,
  • girl

How to Cite

1.
Krstevska-Konstantinova M, Kuzevska-Maneva K, Nestorov H, Georgieva D. Association of Poland Syndrome and hypertrichosis in pubertal girl - Case report. Arch Pub Health [Internet]. 2021 Nov. 20 [cited 2024 Dec. 18];13(2):144-8. Available from: https://id-press.eu/aph/article/view/6003

Copyright (c) 2021 Marina Krstevska-Konstantinova, Konstandina Kuzevska-Maneva, Hristijan Nestorov, Daniela Georgieva

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Abstract

Poland syndrome (PS) is a rare congenital malformation, most commonly characterized by absence of chest wall muscles on one side of the body. It may be accompanied with other deformities of the extremities. We present the case of a 10-year-old girl with Poland syndrome and hypertrichosis of the back of the trunk and extremities. The clinical examination did not reveal the etiology of the syndrome, such as familial predisposition or some event that led to interrupted blood flow during the early embionic growth. The pregnancy was concieved with in vitro fertilization (IVF); triplets were born and our patient is one of these three girls. The hypertrychosis appeared at 8 years of life, without evidence of previous familial occurance, medications or hormonal disbalance. Other malformations that were found were: a mild form of kyphoscoliosis and mitral valve prolapse. The child was evaluated using a multidisciplinary approach, with further follow-up planned with surgical correction of the chest wall and breast augmentation.

OnlineFirst PDF

Downloads

Download data is not yet available.

References

  1. Buckwalte VJA, Apurva SS. Presentation and treatment of Poland Anomaly. Hand (NY). 2016; 11(4): 389-395 DOI: https://doi.org/10.1177/1558944716647355
  2. Wendelin DS, Pope DN, Mallory SB. Hypertrichosis. J Am Acad Dermatol 2003; 48: 161-79. DOI: https://doi.org/10.1067/mjd.2003.100
  3. Tanner JM, Whitehouse RH. Clinical longitudinal standards for height, weight, height velocity, weight velocity and stages of puberty. Arch Dis Child 1975; 51(3): 170-179. DOI: https://doi.org/10.1136/adc.51.3.170
  4. Lantzch T, Lampe D, Kantelhardt EJ. Correction of Poland’s syndrome: case report and review of the current literature. Breast Care 2013; 8(2): 139-142. DOI: https://doi.org/10.1159/000350778
  5. Vaccari CM, Tassano E, Torre M, et al. Assessment of copy number variations in 120 patients with Poland’s syndrome. BMC Med Genet 2016; 17(1):89. DOI: https://doi.org/10.1186/s12881-016-0351-x
  6. Baban A, Torre M, Costanzos et al. Familial Poland anomaly revisited. Am J Med Genet A 2012; 158A(1): 140-149. DOI: https://doi.org/10.1002/ajmg.a.34370
  7. Bamforth JS, Fabian C, Machin G et al. Poland anomaly with a limb body wall disruption defect: case report and review. Am J Med Genet 1992; 43:780-784. DOI: https://doi.org/10.1002/ajmg.1320430504
  8. Baas M, Burger EB, Sneiders D et al. Controversies in Poland syndrome: Alternative diagnoses in patients with congenital pectoral muscle deficiency. J Hand Surg Am 2018; 43(2): 186, el-186, e 16. DOI: https://doi.org/10.1016/j.jhsa.2017.08.029
  9. Aznar JMP, Urbano J, Laborda EG et al. Breast and pectoralis muscle hyperplasia: a mild degree of Poland’s syndrome. Acta Radiol 1996; 37:759-762.
  10. Perez Aznar JM, Urbano J, Garcia Laborda E et al. Breast and pectoralis muscle hypoplasia, a mild degree of Poland’s syndrome. Acta Radial 1996; 37:759-762. DOI: https://doi.org/10.3109/02841859609177712
  11. Samuels TH, Haider MA, Kirkbride P. Poland’s Syndrome: a mammography presentation. A J R 1996; 166:347-348. DOI: https://doi.org/10.2214/ajr.166.2.8553944
  12. Higgs SM, Thompson JF. Poland’s anomaly: a diagnostic pitfall in upper limb trauma. Injury 2003; 31:814-815. DOI: https://doi.org/10.1016/S0020-1383(00)00116-9
  13. Baldelli I, Gallo F, Crimi M et al. Experiences of patients with Poland syndrome of siagnosis and care in Italy: a pilot survey. Orphanet J Rare Dis 2019; 14:269. DOI: https://doi.org/10.1186/s13023-019-1253-8
  14. Beer GM, Kompatscher P, Hergan K et al. Poland’s syndrome and vascular malformations. Br J Plast Surg 1996; 49: 482-484. DOI: https://doi.org/10.1016/S0007-1226(96)90037-5
  15. Fokin AA, Robicsek JE. Poland’s syndrome revisited. Ann Thorac Surg 2002; 74: 2218-2225. DOI: https://doi.org/10.1016/S0003-4975(02)04161-9
  16. Park HJ, Sung SW, Park JK et al. How early can we reapir pectus exavatum: the earlier the better? Eur J Cardiothorac. Surg 2102; 42(4): 667-672. DOI: https://doi.org/10.1093/ejcts/ezs130
  17. Kim DH, Hwang JJ, Lee MK et al. Analysis of the Nuss procedure for pectus excavatum in different age groups. Ann Thorac Surg 2005; 80(3): 1073-1077. DOI: https://doi.org/10.1016/j.athoracsur.2005.03.070
  18. Veening MA et al. Pubertal development in children born small for gestational age. J Pediatr Endocrinol Metab 2004; 17(11): 1497-505. DOI: https://doi.org/10.1515/JPEM.2004.17.11.1497

Most read articles by the same author(s)