Dados do Trabalho

Título

Macrodystrophia Lipomatosa of the Lower Limb: A Case Report

Introdução

Macrodystrophia lipomatosa (MDL) is a rare entity characterized by localized overgrowth of the mesenquimal elements, predominantly the fibroadipose tissue, manifesting gigantism of the digit or limb. Usually present at birth, the affected region increases in length and circumference until puberty, when it ceases to grow. The condition is of unknown etiology, congenital and with no established genetic inheritance, being almost always asymptomatic. It is associated with fibrolipomatous hamartoma (FLH), up to 100% of cases in the upper limb and 66% in the lower limb.
Considering that surgery in these patients is challenging in terms of optimal debulking and functionality preserving, accurate diagnostic and description of its relations to adjacent vascular and neural structures is a key-point in treatment planning.
We describe a case of asymptomatic MDL of the lower limb, associated with FLH.

Descrição

A 14-year-old boy presented with long standing asymmetric growth of the feet. Magnetic Resonance imaging (MRI) was performed, leading to the diagnosis of MDL of the fourth and fifth pododactyles of the right foot, associated with FLH of the lateral dorsal cutaneous nerve. Degenerative changes of the interphalangeal joints of the fifth pododactyle were also seen.

Discussão

A rare form of localized gigantism, MDL is usually asymptomatic, but can potentially lead to nerve or vascular compression, movement impairment of the affected limb, often requiring surgical treatment, not only for debulking and trying to restore original anatomy (with high recurrence rates), but also for amputation, if related to severe peripheral ischemia. Historically described as an idiopathic condition with poorly understood etiology, recent studied have shown association with PIK3CA gene, suggesting it could be part of the PIK3CA-related overgrowth spectrum (PROS).
The case we present is that of a male, with focal, unilateral involvement of the lower limb. Prabhu’s study is one of the largest case series of MDL, and had rare bilateral involvement (one case, 3,22%), being more common in males (61%), nerve territory oriented (90,3%) and most frequently along the median nerve in the upper limb, and medial plantar nerve in the lower limb. In our case, the territory involved was that of the lateral plantar nerve, with associated FLH of the lateral dorsal cutaneous nerve.
Surgery in these patients is challenging in terms of optimal debulking and functionality preserving.

Palavras Chave

macrodystrophia lipomatosa; fibrolipomatous hamartoma; localised gigantism; overgrowth syndrome; macrodactyly