Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Abstract

Background: Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. Main body: The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion: Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts.

Poland syndrome: neonatal presentation with axillarypterygium

“…Poland syndrome is typically characterised by absence or hypoplasia of the pectoralis major muscle (mandatory feature), absence or hypoplasia of the pectoralis minor muscle, abnormalities of the chest wall, hypoplasia or absence of the nipple and ipsilateral upper extremity abnormalities. [1][2][3] Phenotypical presentation is wide and multiple combinations of these clinical defects are possible. In this case, the defect is isolated pectoralis muscle agenesis, representing the minimal form or type 1, according to recent classification of Poland syndrome.…”

“…2 The pathogenesis is unknown, the most accepted hypothesis points to a dysembryological process caused by a vascular defect of the subclavian artery around the sixth week of pregnancy leading to an early insufficient blood flow to the chest and limb. [1][2][3] In most cases, functional disability is mild, treatment relies mainly in surgery and the main goal is to improve the symmetry of the chest wall and to correct breast hypoplasia. [1][2][3]…”

“…[1][2][3] In most cases, functional disability is mild, treatment relies mainly in surgery and the main goal is to improve the symmetry of the chest wall and to correct breast hypoplasia. [1][2][3]…”

“…The pathogenesis is unknown, the most accepted hypothesis points to a dysembryological process caused by a vascular defect of the subclavian artery around the sixth week of pregnancy leading to an early insufficient blood flow to the chest and limb 1–3…”

Poland Syndrome Associated with Lung Cancer: A Case Report and Literature Review

“…This case presented here reinforce the hypothesis of a connection between the two clinical entities. The most commonly accepted causal mechanism is mainly due to the disruption in the blood supply of the brachial arch during embryogenesis [12]. This case is right side lung cancer coinciding with right pectoralis defects on the same side, they are mainly due to the disruption in the blood supply, then lacking of the blood supply gradually affects the development of the lung, thus predisposing the risk of lung cancer [3,13,14].…”