
==== Front
Ann Med Surg (Lond)
Ann Med Surg (Lond)
MS9
Annals of Medicine and Surgery
2049-0801
Lippincott Williams & Wilkins Hagerstown, MD

10.1097/MS9.0000000000000215
00027
3
Case Reports
Incidental finding of Poland syndrome in a case of phimosis: a rare case report from Nepal
http://orcid.org/0000-0002-6782-2100
Niraula Zenish MBBS azenishniraula@gmail.com

http://orcid.org/0000-0001-6472-2908
Ghimire Pradip MBBS aghimirepradip8@gmail.com

http://orcid.org/0000-0001-8382-6761
Pokhrel Sanish MBBS asanispokh.45@gmail.com

http://orcid.org/0000-0002-1565-0220
Ale Magar Sugam MBBS asugamalemagar123@gmail.com

http://orcid.org/0000-0002-9100-2102
Bajracharya Jasmine MBBS, MS jas20005@hotmail.com
b
http://orcid.org/0000-0003-2287-3681
Thapa Bineet MBBS bbineett@gmail.com

a Department of Pediatric Surgery
b Department of Surgery, Nepal Medical College and Teaching Hospital, Kathmandu, Nepal
* Corresponding author. Address: Nepal Medical College and Teaching Hospital, Kathmandu 44600, Nepal. E-mail address: zenishniraula@gmail.com (Z. Niraula).
3 2023
17 2 2023
85 3 490493
19 10 2022
25 12 2022
Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.
2023
https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0/

Introduction:

Poland syndrome is a rare congenital syndrome that mostly includes the absence of unilateral pectoralis major muscle and digit anomalies like symbrachydactyly. It can also present with other varied manifestations like the absence of ribs, bilateral absence of pectoralis major muscle, urogenital anomalies, dextrocardia, etc.

Case Presentation:

We herein present a case of a 6-year-old boy with Poland syndrome as an incidental finding, the second one reported from Nepal, 11 years after the first report. The syndrome was diagnosed after the patient came to the hospital for treatment of phimosis. On examination, the sternocostal head of the right pectoralis major muscle was absent with a palpable clavicular head with symbrachydactyly of the ipsilateral side.

Discussion:

Poland syndrome is mostly diagnosed clinically. Its differential diagnosis includes other chest wall anomalies, nipple anomalies, isolated thoracic lipoatrophy, and isolated hand/upper limb anomalies without pectoralis major muscle involvement. Computed tomography and MRI scans can help delineate the exact chest wall abnormality. It also helps to find other manifestations of the syndrome and for the treatment plans.

Conclusion:

Poland syndrome is a rare syndrome that has the propensity to be missed in clinical settings. Treatment, mainly sought for cosmetic reasons, includes breast augmentation procedures or myocutaneous flap coverage.

Keywords:

Case report
Phimosis
Poland syndrome
Symbrachydactyly
OPEN-ACCESSTRUE
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pmcHIGHLIGHTS

Poland syndrome, a rare congenital syndrome including absence of unilateral pectoralis major muscle and digit anomalies like symbrachydactyly.

No association between Poland syndrome and phimosis has been reported in literature though it cannot be ruled out.

Poland syndrome is mostly a clinical diagnosis though computed tomography and MRI scans are helpful.

Introduction

Poland syndrome is a rare congenital syndrome that consists of anatomic anomalies that include the absence of the sternocostal head of the pectoralis major muscle with other varied manifestations that include hypoplasia or absence of the pectoralis minor muscle as well as digital anomalies like syndactyly and brachydactyly1. This syndrome is named after Alfred Poland, 81 years after his publication about the syndrome in 18412,3. The incidence of the syndrome is estimated as one in 36,000 to one in 50,000, mostly with unilateral hypoplasia of the breast and pectoralis major muscle4. Herein, we present a case of Poland syndrome with phimosis in a 6-year-old male patient in a tertiary health care center in Nepal. This case has been reported in line with the 2020 Surgical CAse REport (SCARE) guidelines5.

Case report

A 6-year-old Buddhist male child from the suburban area of Kathmandu, Nepal, came to the surgical outpatient department of a tertiary health care center with complaints of ballooning of prepuce associated with a small stream of urine flow while micturating for 10 days. On clinical examination, the child was diagnosed with a case of phimosis and was planned for circumcision. The patient was sent for a preanesthetic checkup, where he was found to have chest asymmetry with right-sided depression of the pectoral region and short, webbed fingers in the right hand. Thereafter, detailed history taking, clinical examination, and investigations of this case were done.

He is the second child of a nonconsanguineous marriage by a 30-year-old mother. Antenatal history was uneventful except that his mother underwent only one ultrasound sonography investigation 4 months after the conception, on which no abnormalities were detected. He was delivered by normal vaginal delivery in a Primary Health Care Center in rural Nepal. There is no similar disorder present in any other family members. On examination, there was right-sided hypoplasia of the chest muscle, and the sternocostal head of the pectoralis major muscle was not palpable during adduction of the arm against resistance (Fig. 1A). Clavicular head of the pectoralis major of the right side was palpable during transverse adduction of the arm against resistance. Both sternocostal and clavicular heads of the pectoralis major of the left side were palpable. Both the nipples were at the same level, but the right nipple was hypoplastic with no ribs abnormality. There were disproportionately short fingers in the right hand with webbing between the index and middle finger (Fig. 1B). There was no hypoplasia of the thenar and hypothenar muscle of the right hand. He has a left-hand preference and no daily activity limitation. Developmental milestones were achieved normally, and he has good school performance. There is no facial asymmetry suggesting no association with other syndromes. Chest X-ray showed no abnormality of ribs or dextrocardia; ultrasound examination also showed no abnormality, both kidneys were normal, and on performing echocardiography, there were normal findings. Due to financial challenges and no serious manifestation of the syndrome, the patient did not undergo a computed tomography (CT) scan.

Figure 1 (A) Hypoplasia of right-sided chest, telemetry lead sticker mark on right supramammary area; (B) symbrachydactyly of the right hand.

The child underwent a normal Guillotine technique circumcision for phimosis. All of the treatment options for Poland syndrome were counseled to the patient family, and they opted for observation with no surgical intervention (Fig. 2).

Figure 2 (A) Gross appearance of phimosis after penile block; (B) undergoing circumcision.

Discussion

This case report of Poland syndrome is the second one reported from Nepal, 11 years after the first report6. The syndrome is usually sporadic, and the familial connection is less than 1%. Mostly the cases are unilateral; however, bilateral cases are also reported7. According to the literature, males are affected three times more than females, and right-sided presentation is twice as left-sided8. Children have twofold of developing Poland syndrome whose mothers smoked during pregnancy9.

The exact etiology is still unknown; however, the likely pathogenesis of Poland syndrome may be due to disruption of the development of the proximal subclavian artery that supplies the pectoral muscles around the 6th week of gestation. This causes decreased blood flow to the pectoral region and distal limb, leading to regional loss of tissue10. The term ‘subclavian artery supply disruption sequence’ is used to describe the disruption of the blood vessels, suggesting a common pathogenesis in Poland syndrome and Moebius syndromes11.

The commonly accepted features of the syndrome include partial/complete absence of the pectoralis major, absence/hypoplasia of the breast or nipple, or both, hypoplasia of the subcutaneous fat tissue, absence/hypoplasia of the pectoralis minor, pectoral and axillary alopecia, aplasia/deformity of the ribs, and hand anomalies. The unilateral absence of the pectoralis major is the salient feature, mainly the absence of its unilateral sternal head7. In some cases, skeletal system anomalies like the spine, scapula, and sternum are also reported. Urogenital anomalies, heart anomalies, and pectoralis major anomalies as a part of Moebius syndrome are also seen in various frequencies12. There are no case reports of Poland syndrome associated with phimosis to date; however, this does not invalidate the association between the syndrome and phimosis for which more cases need to be reported. According to Foucras’ classification, this syndrome is graded from I to III to qualify the degree of severity13. Our patient falls under grade I based on this classification. The diagnosis of this syndrome is mainly clinical; however, radio imaging, especially CT and MRI scans, can accurately detect muscular abnormalities14.

Treatment of Poland syndrome is based on the severity of the deformity. If there is no severe manifestation or functional deformity, no surgical intervention is needed. Surgical intervention is typically for cosmetic reasons, especially in girls. Surgical treatment options include reconstruction of the chest wall with myocutaneous flap coverage and breast augmentation procedure15. Ipsilateral pedicled latissimus dorsi flap and submuscular augmentation can also be done6. For syndactyly, syndactyly reconstruction of affected digits is done, especially if the thumb is involved in improving grasping and pinching function.

Conclusion

Poland syndrome is a rare congenital disease that is diagnosed clinically and through radio imaging. In rural settings where the facility of CT and MRI scans are not available, clinical methods are useful for diagnosing the syndrome. This syndrome has various manifestations, with the affection of chest muscles and hand deformity being the most common. Since Poland syndrome is a rare syndrome, this case report will help clinicians know more about the condition and for better diagnosis. As this syndrome was an incidental finding during the preanesthetic checkup, it should not be neglected during preanesthetic checkup; otherwise, the various manifestations of the syndrome can have its own complications during the surgery.

Ethical approval

Case reports are exempt from ethical approval in our institution, Nepal Medical College and Teaching Hospital, Attarkhel, Kathmandu, Nepal.

Patient consent

Written informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Source of funding

No source of funding was provided.

Author contribution

Z.N., P.G., S.P., and S.A.M. contributed equally on conceptualization, study design, acquisition of patient information, previous literature review, preparation of draft, and editing. J.B. and B.T. performed phimosis surgery and helped in editing of the report. All the authors individually did the final proofreading of the manuscript before submission.

Conflicts of interest disclosure

The authors have no conflicts of interest.

Research registration unique identifying number (UIN)

None.

Guarantor

Z. Niraula, Nepal Medical College and Teaching Hospital, Kathmandu University, Attarkhel, Kathmandu, Nepal, E-mail: zenishniraula@gmail.com

Provenance and peer review

Not commissioned, externally peer-reviewed.

Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article.

Published online 17 February 2023
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