Clinical Characteristics of 90 Macrodactyly Cases

Abstract

Purpose Macrodactyly is a rare, nonhereditary congenital deformity. Digital enlargement in macrodactyly involves all tissue types and presents alone or as part of a congenital deformity syndromes. Macrodactyly treatment largely depends on surgeons' experience and knowledge. Because there is a paucity of large cohort studies of macrodactyly in the literature, our goal was to retrospectively analyze macrodactyly cases in order to define a better system for diagnosis, classification, and prognosis.Methods Medical records of 90 Chinese macrodactyly patients, including demographic characteristics, clinical presentations, anatomical distributions, x-rays, pathological findings, and treatments, were reviewed. Genetic analyses of 12 patients were also reviewed.Results Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 2.6 times more frequent than single-digit involvement. The index finger, middle finger, and thumb were most commonly involved. Two digits were affected more often than 3, with the affected digits adjacent in most cases. The affected digit was in the median nerve innervation distribution in 79% of cases and was accompanied by enlargement and fat infiltration of the median nerve. Seven cases had syndactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive.Conclusions Macrodactyly represents a heterogeneous group of conditions, without significant sex or geographical predilection, which is usually present at birth. A high PIK3CA mutationepositive rate in affected tissues suggests a similar cellular mechanism for overgrowth in patients with various clinical presentations.

Clinical characteristics of 93 cases of isolated macrodactyly of the foot in children

“…Although, none of our patients had a positive family history or any similar deformity consistent with other reports [ 7 , 17 ] and the external environmental factor did not seem to affect the pathogenesis of the pedal macrodactyly, multiple pregnancy and live birth accounted for 45%, indicating that intrauterine environment might play an important role in the pathogenesis of foot macrodactyly during fetal development [ 1 , 18 ].…”

Phalangectomy combination double-pedicled digital artery flap for second-toe macrodactyly reconstruction: A case report

“…The patient’s affected toes showed fast growth and continued to grow disproportionately, which is also known as the progressive type [ 1 , 2 , 5 ]. This case of macrodactyly was considered nonhereditary, consistent with the patient’s family history, as no family member had the same condition [ 6 ].…”

“…It has also been reported that macrodactyly predominantly occurs in males at a ratio of 1.2:1. Macrodactyly has a higher probability of affecting the second digits, with the progressive type having a higher proportion among all cases [ 6 ].…”

“…Surgical interventions for macrodactyly include the following: fat mass reduction by debulking-dissecting of bone and soft tissue; osteotomy or ostectomy; epiphysiodesis; nerve decompression; and amputation. Combinations of surgical techniques that can be performed include phalangectomy followed by tendon shortening and fixation of the adjacent joint capsules [ 4 , 6 , 7 ]. We herein report a case of pedal macrodactyly of the right foot, and this case is reported in line with the Surgical Case Report Guidelines (SCARE Guidelines) 2020 [ 8 ].…”

Macrodactilia con sindactilia completa compleja en mano: reporte de caso

“…Dentro de las investigaciones más recientes se encuentran las de Hardwicke y et al en el 2012 con 32 casos 12 , y las de Wu y colaboradores con 90 casos de macrodactilia en China 13 , en donde la incidencia es mayor en varones 14 y con frecuencia afecta al dedo índice seguido por el dedo medio, así como también suele observarse un crecimiento progresivo hasta el cierre de las epífisis entre los 15 y 17 años 12 . Dentro de los reportes, se describe la presentación unilateral en el 95 % de los pacientes con macrodactilia 13 , función sensitiva preservada y movilidad que va disminuyendo con el paso de los años 15 . La macrodactilia puede ser una enfermedad aislada o estar asociada a sindactilia en el 10 % de los casos, y a la polidactilia y criptorquidia en un 2% 16 .…”