A clinical picture of ectrodactyly hand.

Abstract

37-year-old outpatientwomanhas recentlycometoourattention for left shoulder pain, which was successfully treated for bursitis through needle aspiration of 70 mL of blood and intra-articular administration of 4 mg of anti-inflammatory glucocorticoid with complete pain recovery. She was generally well developed, in good health, and married with 3 children. During the examination, it was noted that she is affected by a ectrodactylyc right hand, inwhich therewas absence of proximal and intermediate phalanges of the second, third, and fourth hand rays (Figure). Although movements of the involved hand are limited to the first and fifth fingers, the patient had never required any therapy to improve the function. Whereas phocomelia is a rare birth defect in which the absence of the upper portion of a bone makes a hand or foot attached to the body (flipper-like limbs), ectrodactyly is a rare malformation involving the central rays of the hands and feet, usually affecting 1 to all 4 limbs randomly. 1 The term ectrodactyly was invented by the French anatomist Isidore Geoffroy Saint-Hilaire in 1832 and means“absence offingers.” Differently from frequent involvement of both hand(s) and feet of this disease, our case was limited to 1 hand. Literature review showed a peculiar case in which the patient had a single finger (the third) on each hand that worked enough to guarantee sufficient clamp function to manipulate medium-sized objects. 2 Our patient uses the affected right hand for most uses, even to drive. Similarly to ours, a case with involvement of a single hand reported simple absence of the third finger of the right hand, 3 and another description concerned only the left hand in 1 of monozygotic twins. 4 Ectrodactyly is typically found in association with chromosomal rearrangements such as deletions or translocations, in which a failure to maintain median apical ectodermal ridge signaling is the main pathogenic mechanism. 5 Hence, our case is peculiar, because it seems to support a previous finding in which atypical split hand is not genetically determined 4 because none in her family members was affected, and its clinical features point it out as a rare presentation when compared with the worldwide scientific literature.