A Review of Macrodystrophia Lipomatosa: Revisitation

Abstract

Macrodystrophia lipomatosa (MDL) is a rare congenital non-hereditary disorder that has significant impact on patient morbidity. This study provides a comprehensive review of the natural history, diagnosis, management, and outcomes of the disorder. A literature search in PubMed was conducted to identify cases of MDL from January 1950 to 14 February 2014. After ruling out articles without information related to the management of the disorder, a summary of 32 studies was performed. An additional three cases from the authors are also presented. Based on 57 journal articles and three additional cases from the authors, around 108 cases of MDL were reviewed. Most patients were males who were admitted to a treatment clinic in the first four years of life. The lower extremities were more frequently affected, with unilateral presentation being most common. They commonly underwent a single-staged surgical procedure with follow-up periods ranging from more than one year up to 21 years. Out of 43 cases that underwent surgical procedures, 13 reported no complications, and there were seven cases of esthetic satisfaction and 15 cases of significant functional improvement. Depending on the severity of a patient's condition, the use of non-invasive diagnostic tools should be carefully considered. Surgery might be a better choice of management than observation, taking into account possible future complications in the absence of surgery and the beneficial outcomes of surgical procedures.

Keywords: Congenital limb deformities; Fingers; Lower extremity; Upper extremity.

Fig. 1. Presentation of patient no. 2 in the unit

A 6-year-old female presented with a metatarsal head-to-head size that was double that of the normal right foot; her third toe was six times the normal length and circumference (A, B). X-ray indicated an enlargement of the second, third, and fourth digits (C, D).

Fig. 2. Algorithm for management of macrodystrophia lipomatosa

This algorithm shows how to manage macrodystrophia lipomatosa (MDL) patients from early consultation to definitive management. Presentations of macrodactyly or megalodactyly should be accompanied by precise anamnesis. It should be asked whether the condition is painful or painless and if it is congenital and/or hereditary. Detailed physical examination should focus on the anatomical location, nature of the physical deformity, tenderness, dimensions of the affected area, and functional disturbances. At the least, X-ray should be performed as a diagnostic test, with further imaging tests performed if necessary and available. When the diagnosis of macrodystrophia lipomatosa is confirmed, management strategies comprise observation only or surgery followed by observation. Presentation of macrodystrophia lipomatosa before puberty, or with single digit involvement, or with concurrent urgent medical conditions calls for observation only. If these conditions are absent, surgery can be performed with subsequent observation for outcome and recurrence. EMG, electromyography; CT, computed tomography; MRI, magnetic resonance imaging; USG, ultrasonography. ^a)They usually manifest as macrodactyly without adipose tissue overgrowth; ^b)Both esthetic and functional.