Thalidomide upper limb embryopathy - pathogenesis, past and present management and future considerations

Abstract

This review article provides a comprehensive overview of thalidomide upper limb embryopathy including updates about its pathogenesis, a historical account of the management of the paediatric thalidomide patient, experience with management of the adult patient, as well as creating awareness about early onset age-related changes associated with limb differences. Despite its withdrawal from the market in November 1961, novel discoveries have meant thalidomide is licensed again and currently still in use to treat a variety of conditions, including inflammatory disorders and some cancers. Yet, if not used safely, thalidomide still has the potential to cause damage to the embryo. Recent work identifying thalidomide analogues that retain clinical benefits yet without the harmful effects are showing great promise. Understanding the problems thalidomide survivors face as they age can allow surgeons to support their unique healthcare issues and translate these principles of care to other congenital upper limb differences.

Keywords: Thalidomide; cereblon; embryopathy; radial dysplasia; reversed shoulder.

Figure 1.

Simple orthoses could help with daily activities.

Figure 2.

A typical example of thalidomide-associated ‘phocomelia’. Note the presence of the scapula and clavicle. The hand has a major radial deficit and is attached to a short bone that has some features of a humerus.

Figure 3.

(a) An adult thalidomide patient with bilateral radial dysplasia. (b) The right elbow joint, demonstrating a single bone articulation that can be compensated for by glenohumeral external rotation.

Figure 4.

Radiological changes of the right shoulder joint showing severe glenoid dysplasia, with concave remodelling of the humeral head. This is due to constant excessive external rotation at the shoulder and has been described as a ‘natural reverse shoulder replacement’.

Figure 5.

(a) This patient with bilateral radial dysplasia presented with severe median nerve compression in his right hand. Note the scaphoid hypoplasia on the right wrist indicating a mild radial dysplasia with thumb hypoplasia. (b) Ultrasound images showed an enlarged median nerve proximal to the carpal tunnel (yellow dotted line). Such imaging is helpful when planning surgery as the position of the nerve may be abnormal and (c) The left wrist was also scanned but no median nerve could be seen convincingly.