Abstract
AimMacrodystrophia lipomatosa is a rare cause of gigantism of limb which can be confused with other common causes like congenital lymphedema. It presents usually with loss of function and cosmetic problems. Four cases are described with emphasis on clinical presentation, differential diagnoses, imaging and treatment options.Methods & ResultsFour patients of macrodystrophia lipomatosa were thoroughly examined and subjected to investigations.ConclusionBesides diligent clinical examination, imaging and histopathology are crucial in clinching the diagnosis.
Highlights
Macrodystrophia lipomatosa, hamartomatous enlargement of the soft tissue components leading to localized or generalized gigantism of a limb, is a rare congenital disorder which can present anywhere from infancy to late adulthood
A variety of terms have been used to nominate the condition like macrodactyly, megalodactyly, digital gigantism, macromelia, partial acromegaly, macrosomy, and limited gigantism [1,2,3,4,5,6,7,8]
We present here four cases of the anomaly with the aim to high lighten the clinical features, differential diagnoses and the treatment protocol to be followed in these patients
Summary
Macrodystrophia lipomatosa, hamartomatous enlargement of the soft tissue components leading to localized or generalized gigantism of a limb, is a rare congenital disorder which can present anywhere from infancy to late adulthood. Presentation in pediatric age group leads to considerable confusion and till such time when the diagnosis is reached, various descriptive terms are given to such an anomaly [1]. A variety of terms have been used to nominate the condition like macrodactyly, megalodactyly, digital gigantism, macromelia, partial acromegaly, macrosomy, and limited gigantism [1,2,3,4,5,6,7,8]. We present here four cases of the anomaly with the aim to high lighten the clinical features, differential diagnoses and the treatment protocol to be followed in these patients. Biopsy demonstrated profuse amount of fatty tissue with proliferation of subcutaneous nerves (Table 1)
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