Age / Sex : 15 / M

Chief complaint: enlargement of left 2nd toe

1) What is your impression?

Two weeks later, you can see the final diagnosis with a brief discussion of this case.

(Quiz는 quiz일 뿐이오니 답안은 한개만 보내주시기 바라오며, 복수의 답안을 보내주시는 분은 정답이 포함되어 있더라도 부득이 semi-correct answer로 처리토록 하겠습니다.)

Courtesy: 곽규성(Kwack, Kyu-Sung)/이보람(Yi Boram), 아주대병원(Ajou University Hospital)

Macrodystrophia lipomatosa

Discussion

Findings: Osseous overgrowth and enlarged soft tissue in Lt.
2^nd toe.

Differential Diagnosis:

Localized gigantism (vascular
malformation, Maffucci syndrome, etc)

             Diffuse
lipomatosis with overgrowth of bone.

             Hemiplegia
from cerebral palsy (can cause localized tissue overgrowth)

Diagnosis: Macrodystrophia lipomatosa

Discussion:

Macrodystrophia
lipomatosa is progressive overgrowth of bone and adipose tissue (local
gigantism) of single or multiple digits. 2^nd and 3^rd
digits of hand or foot are most commonly involved. Overgrowth of bone and fatty
soft tissue has distal preference and bone overgrowth can produce bowing. Long
and broad phalanges with splayed distal tufts are also noted.

This lesion
present at birth or infancy and has female predominance. 27-67% patients have
also lipomatosis of nerve. Generally, bony overgrowth ceases after puberty and
soft tissue proliferation continues into adulthood.

References:

1.    
Weiss SW et
al: Benign lipomatous tumors. In Weiss SW et al: Enzinger and Weiss' Soft
Tissue Tumors. 5th ed. Philadelphia: Elsevier. 460-1, 2008

2.    
Fritz TR et
al: Macrodystrophia lipomatosa extending into the upper abdomen. Pediatr
Radiol. 37(12) : 1275-7, 2007