Distal Dorsal Dimelia: A Disturbance of Dorsal-Ventral Digit Development.

Purpose: Congenital palmar nail (distal dorsal dimelia [dDD]) of the hand is a rare malformation most commonly affecting the little finger. The purpose of this report was to review the features and associations of this rare disorder and discuss the suspected underlying etiology in light of our current understanding of developmental biology.
Methods: In this retrospective cohort study from 3 practices, we describe our collective experience and review the reported literature on this disorder both as an isolated condition and in conjunction with other anomalies.
Results: We examined 15 fingers with dDD, 5 of which involved little fingers. We also found dDD in 6 cases with radial polydactyly (preaxial polydactyl type II [PPD2]) and in 1 case of cleft hand involving digits adjacent to the clefted web space (the index and middle fingers). Cases of little finger dDD were also associated with prominent clefting of the adjacent web space in 4 of 5 cases. All cases had stiffness of the interphalangeal joints and loss of palmar creases consistent with dorsalization of the palmar aspect of the digit. When combined with 63 fingers reported in the literature with dDD, 3 patterns were evident. The most common form occurred in little fingers (n = 50; 64%; dDDu). The next most common form was reported in association with cleft hands (n = 16; 21%; dDDc). Radial digits in association with either radial polydactyly (PPD2) or radial longitudinal deficiency were also susceptible to dDD (n = 12; 15%; dDDr).
Conclusions: Congenital dDD is a disturbance of terminal dorsal-ventral digit patterning. The distribution of this condition with little fingers, clefting, and altered radial digit formation (PPD2 or radial longitudinal deficiency), as well as recent genetic and animal studies, suggests that dDD and altered dorsal-ventral patterning are linked to abnormal apical ectodermal ridge boundary formation.
Type of Study/level of Evidence: Diagnostic IV.
(Copyright © 2019 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.)