Delay in Diagnosis of Congenital Linear Scleroderma until Adulthood

Abstract

Background

Scleroderma encompasses a spectrum of disorders characterized by thickening of the skin and subcutaneous tissue with increased collagen deposition. Linear scleroderma is subdivided into progressive hemifacial atrophy and en coup de sabre subtype.

Objective

We report a case of congenital linear scleroderma identified in an adult, misdiagnosed since birth as birth trauma.

Methods

We completed a review of the literature for similar cases using PubMed and Medline.

Results

This is the first report of congenital linear scleroderma en coup de sabre diagnosed in an adult following an initial misdiagnosis of birth trauma. The sequelae of linear scleroderma can be significant as it can result in growth retardation, muscle atrophy, contractures, limb length discrepancy, and disfigurement.

Conclusions

This report emphasizes the importance of educating practitioners about linear scleroderma. Early recognition is key as a delay in diagnosis can result in potentially preventable, irreversible growth defects and disfigurements.