Macrodactyly: Report of Eight Cases and Review of the Literature

Abstract

Congenital enlargement of one or several digits of the hands or feet (macrodactyly) is a rare disorder. A considerable proportion of the patients with this condition are referred to dermatology departments. The majority of the cases reported in the literature represent hamartomas with combined hypertrophy of several, predominantly lipomatous, soft tissue components and overgrowth of bone. The differential diagnosis includes Klippel-Trenaunay-Weber syndrome, neurofibromatosis, Milroy disease, and Proteus syndrome. We describe eight cases of congenital macrodactyly, discuss the findings, and propose a simple clinicopathologic terminology.

Proteus Syndrome of the Hand

“…The differential diagnosis of this presentation of Proteus syndrome includes macrodactyly which is a rare congenital, nonhereditary hamartoma presenting as an overgrowth predominantly affecting one or several digits [11][12][13]. Hands and feet are affected with almost equal frequency.…”

“…It should be distinguished from more extended malformations such as macromelia and hemihypertrophy. In addition, there is a range of other congenital conditions in which localized overgrowth may resemble macrodactyly [13,18]. These include neurofibromatosis [19] and KlippelTrenaunay-Weber syndrome.…”

Prenatal Sonographic Diagnosis and Evaluation of Isolated Macrodactyly

“…The second or third digit of the hand or foot are frequently involved in the majority of cases, corresponding to the median nerve and medial plantar nerve distribution (Krengel et al, 2000;Sone et al, 2000). The enlargement is most pronounced at the distal end of the digits on the volar side and therefore causes dorsal angulation (Singla et al, 2008).…”

Surgical Cure of Foot Macrosyndactyly: A Case Report

“…Other terms used to name this condition are: local gigantism, lipomatous macrodistrophy, localized hypertrophy, fi nger fi brolipomatosis and digital gigantism [4]. It is a rare congenital, non-hereditary disease that can occur in the hands or feet [5][6][7]. It is characterized by an increase in all mesenchymal elements particularly fi bro-adipose tissue [1,8,9].…”

“…In the progressive form the growth of the fi nger ceases when the epiphyses are closed, usually the sensitivity is normal, the mobility decreases with time and the ulcers in the bud are frequent. forms of macrodactyly [5]. Macrodactyl may be associated with hernia.…”