Macrodystrophia lipomatosa (MDL) is a rare, nonhereditary, congenital malformation that primarily affects the proliferation of mesenchymal structures. It presents with localized macrodactyly of one or more digits. The characteristic pathology is associated with hypertrophic fibroadipose tissues, more so to the plantar aspect of the foot. This condition can pose a threat to vascular supply, innervation, and even joint function. We present a single case of a 4-year-old male patient who presented with progressive enlargement of a unilateral left fifth digit since birth. The patient became increasingly symptomatic. Amputation was the selected treatment, and on pathological review of the specimen, the diagnosis of MDL was confirmed. The patient is approximately 1 year postoperative and has recovered uneventfully with an improved quality of life. The purpose of this article is to raise awareness of this condition with an emphasis on diagnosis through ancillary imaging results.
Levels of evidence: Therapeutic, Level IV: Case report.
Keywords: amputation; congenital; fibroadipose tissue; macrodystrophia lipomatosa.
© 2014 The Author(s).