A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment

Abstract

Poland's syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of pectoral muscles, mammary hypoplasia and variably associated ipsilateral limb anomalies. Limb defects can vary in severity, ranging from syndactyly to phocomelia. Most cases are sporadic but familial cases with intrafamilial variability have been reported.Several theories have been proposed regarding the genesis of PS. Vascular disruption theory, "the subclavian artery supply disruption sequence" (SASDS) remains the most accepted pathogenic mechanism. Clinical presentations can vary in severity from syndactyly to phocomelia in the limbs and in the thorax, rib defects to severe chest wall anomalies with impaired lung function. Most patients have subtle presentation at birth and milder forms in childhood. Functional limitations due to PS are usually minimal. Surgical treatment aims to improve pulmonary functions arising from severe thoracic deformities but is more often done to enhance the cosmesis. The use of adipose-derived mesenchymal stem cells and fat transfer have shown promising results in recent times for correction of chest defects and breast augmentation. Gaining deeper insights into the etiopathogenesis and clinical presentation of PS will improve the clinical recognition and management of this rare condition. In this review article, we aim to outline the details of this syndrome including its etiopathogenesis, evolution, spectrum of clinical manifestations, other systemic associations, diagnostic modalities, and recent advances in treatment.

A Case of Acute Plastic Deformation of the Forearm in a Medieval Hispano-Mudejar Skeleton (13–14th Centuries AD)

“…In greenstick fractures, the affected bone surface is on the convex aspect. In postmortem deformation, the dry bone, hard and at the same time fragile, has lost its elasticity, not allowing this type of fracture [22-25].…”

Reply to “Comment on ‘Becker nevus syndrome: A 2020 update’”

“…Some of the conceivable scenarios include the following: (1) PS is caused by a postzygotic mutation also involving cutaneous structures and would, therefore, constitute a novel epidermal nevus syndrome ( featuring the speculative organoid epidermal nevus mentioned above); (2) PS is caused by a postzygotic ACTB mutation not involving cutaneous structures, and, together with noncutaneous mosaics such as segmental odontomaxillary dysplasia, could represent the end of a spectrum that includes Becker nevus at the other end (cutaneous-only mosaic) and BNS as an intermingling of the 2; and (3) PS is not caused by a postzygotic mutation; therefore, its segmental phenotype would not be an expression of mosaicism but of other pathogenetic mechanisms (eg, arterial malformations). 2 This exchange of opinions between Cohen and me will hopefully help spark renewed interest in PS, an old and relatively frequent, but still incompletely understood condition.…”

“…Indeed, PS manifestations can also occur at regions other than the upper limb. 2 Furthermore, although other cutaneous abnormalities observed in PS patients are probably coincidental, occasionally reported hypotrichosis and anhidrosis seem to result from hypoplasia of the hair follicles and apocrine sweat glands, respectively. 4 These abnormalities, if occurring in a mosaic pattern, would configure a yet unframed organoid epidermal nevus of quite an inconspicuous appearance.…”

“…The pathogenesis of PS is, instead, still a matter of debate. 2 It has been suggested that PS represents an expression of mosaicism. 3 It is worth mentioning that the vast majority of known segmental mosaic conditions can affect any anatomic region and include hallmark cutaneous manifestations.…”

A pitfall in chest imaging

“…As no one in his family presented with similar symptoms, the patient was considered to have sporadic Poland syndrome. Poland syndrome is a rare congenital disorder of the musculoskeletal system 1 . The typical case presents with hypoplasia or aplasia of the pectoralis major muscle and varying degrees of ipsilateral limb abnormalities.…”