Macrodystrophia Lipomatosa

INTRODUCTION

Macrodystrophia lipomatosa is a rare nonhereditary developmental anomaly. It is also a form of congenital localized gigantism. The term “macrodystrophia lipomatosa” was first coined by Hans Feriz in 1925.

CASE DESCRIPTION

A 24-year-old female presented to medicine OPD with complaints of upper respiratory tract infection for 2 days, and she was treated accordingly. During examination, we noticed that the second toe of her right foot is enlarged in size. On examination, rest of her foot was normal in size. She told that her right second toe was larger in size than rest of her foot since birth and it developed with rest of the foot. There was no neurological deficit present. There was no history of similar deformity in any other family member. On investigation, X-ray foot was suggestive of enlarged tarsal and metatarsal bones of second toe (Fig. 1).

DISCUSSION

Macrodystrophia lipomatosa is a rare cause of congenital gigantism of the limbs. It is characterized by disproportionate overgrowth of one or several digits. It may even involve the entire limb also.¹

The disease is characterized by the proliferation of all the mesenchymal elements of a digit or digits. There is disproportionate increase of fibroadipose tissue, which involves the bone marrow, periosteum, muscle, and nerve sheath.^2,3 Barsky divided macrodystrophia lipomatosa into two types: progressive form and static form.⁴ In the progressive form, the growth rate of mesenchymal tissues is faster compared to normal tissues and this abnormal growth ceases at puberty while in the static form, the growth rate of affected tissues is normal. Progressive macrodactyly is more common than the static type. Exact etiology is unknown, but various hypotheses have been proposed. These include damage of extremity bud and alteration of somatic cells in intrauterine life, fetal circulation abnormality, lipomatous degeneration, and hypertrophy of the concerned nerve.⁵ Patients are mainly concerned about cosmetic and mechanical problems. Treatment is mainly reconstructive surgery.

REFERENCES

1. Goldman AB, Kaye JJ. Macrodystrophia lipomatosa: radiographic diagnosis. Am J Roentgenol 1977;128(1):101–105. DOI: 10.2214/ajr.128.1.101.

2. Singla V, Virmani V, Tuli P, et al. Case report: macrodystrophia lipomatosa – illustration of two cases. Indian J Radiol Imaging 2008;18(4):298–301. DOI: 10.4103/0971-3026.43844.

3. Choudhary S, Ray S, Prabhakaran N. Macrodystrophia lipomatosa: a case report with review of literature. J Evol Med Dent Sci 2013;2(28):5216–5222. DOI: 10.14260/jemds/973.

4. Barsky AJ. Macrodactyly. J Bone Joint Surg Am 1967;49(7):1255–1266. DOI: 10.2106/00004623-196749070-00001.

5. Ly JQ, Beall DP. Quiz case. Macrodystrophia lipomatosa. Eur J Radiol 2003;47(1):16–18. DOI: 10.1016/S0720-048X(02)00135-3.