Isolated macrodactyly of the foot: a case report in childhood

Abstract

Introduction: Macrodactyly is a congenital anomaly
characterized by increased digital structures, affecting
fibroadipoose tissue and bone. May involve one or multiple
fingers and can affect hands - more frequent -, or feet and can
be an isolated finding or associated with syndromes. It can be
classified according to its progression as static or progressive.
Of genetic character, macrodactilia is included in the PIK3CA
related overgrowth spectrum. Objective: To report a case of
isolated macrodactilia in a pediatric patient. Case description:
Male patient, seven years old, with progressive growth of halux
right since the age of three. No personal history of comorbidities
or trauma. In prenatal history, multigest mother, smoking
during pregnancy, without other complications. Family history
is negative for macrodactilia or other hypertrophies. The child
denies feeling pain but reported aversion to the aesthetic aspect
of the feet, a feeling related to the bullying suffered at school. At
physical examination, he presented hypertrophy of the right first
toe associated with a slight overall increase in the right foot. No
march or sensitivity changes. No skin lesions or other changes
to physical examination. Discussion: The prognosis of patients
depends on the degree of severity of the phenotype and the
extent of hypertrophy and vascular complications. The lighter
presentation may only include asymmetrical excessive growth of
the limbs and is expressed as isolated macrodactyly, such as the
patient presented. Because it did not present functional losses,
no surgical intervention has been required and the patient is still
under multiprofessional clinical follow-up.