2023•Annals of Medicine and SurgeryOpen access

Incidental finding of Poland syndrome in a case of phimosis: a rare case report from Nepal

Zenish Niraula, Pradip Ghimire, Sanish Pokhrel, Sugam Ale Magar, Jasmine Bajracharya, Bineet Thapa

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Abstract

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.

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What this paper is about

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.

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Available abstract

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.

Key concepts: Medicine, Poland syndrome, Pectoralis major muscle, Pectoralis Muscle, Rib cage, Sternum, Differential diagnosis, Dextrocardia

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