Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses

Purpose: Multiple hereditary exostoses (MHEs) comprise a rare skeletal disorder. This study aimed to elucidate the natural history and characteristics of hand exostoses by focusing on their progression or regression and their association with shortening and angular deformation of the finger bones.

Methods: Of 60 MHE patients who presented to our hospital between 2005 and 2019, 32 patients (62 hands) who underwent hand x-ray examinations were included in a study of initial presentation. Among them, 15 patients (30 hands) who underwent consecutive x-ray examinations before epiphyseal closure were included in a subsequent follow-up study (follow-up period, 6.9 years). We investigated the incidence and common location of hand involvement by exostoses during the initial examination study. We further investigated the progression or regression of hand exostoses and the influence of hand exostoses on longitudinal bone growth and the angular deformation of finger bones during the follow-up study.

Results: In the initial study, we observed exostoses in 30 (60 hands) of 32 (62 hands) patients. The average number of exostoses per hand was 5.2. Exostoses developed more frequently in the middle and ring proximal phalanges and the fifth metacarpal. In the follow-up study, 3.1 exostoses per hand spontaneously regressed and 2.9 exostoses per hand occurred de novo with growth. Progression of exostoses was mainly observed by approximately age 15 years; thereafter, spontaneous regression became dominant. Regression of exostoses was frequently observed in metacarpals, whereas de novo exostoses frequently occurred in phalangeal bones, particularly in distal phalanges. Growth plate involvement by exostoses did not influence the longitudinal growth of finger bones, but it increased their angulation.

Conclusions: The hand is a common location of exostoses development for MHE patients. Although some exostoses in the hands regress with skeletal maturity, hand involvement by exostoses can result in angular deformity.

Type of study/level of evidence: Diagnostic IV.