Surgical trauma induces overgrowth in lower limb gigantism: regulation with use of rapamycin is promising.
Abstract
We describe an unclassified overgrowth syndrome characterised by unregulated growth of dermal fibroblasts in the lower limbs of a 35-year-old woman. A gene mutation resulted in lower limb gigantism. Below the waist, she weighed 117 kg with each leg measuring over 100 cm in circumference. Her total adiposity was 50% accounted for by her legs mainly. Liposuction and surgical debulking were performed to reduce the size of the limbs but had exacerbated the overgrowth in her lower limbs. Systemic sepsis from an infected foot ulcer necessitated treatment by an above-knee amputation. Postoperatively, the stump increased in size by 19 kg. A trial of rapamycin to reverse the growth of the stump has shown promise. We discuss the clinical and genetic features of this previously unclassified disorder and the orthopaedic considerations involved.
추출된 의학 개체 (NER)
| 유형 | 영어 표현 | 한국어 / 풀이 | UMLS CUI | 출처 | 등장 |
|---|---|---|---|---|---|
| 시술 | liposuction
|
지방흡입 | dict | 1 | |
| 해부 | lower limb
|
scispacy | 1 | ||
| 해부 | dermal fibroblasts
|
scispacy | 1 | ||
| 해부 | lower limbs
|
scispacy | 1 | ||
| 해부 | leg
|
scispacy | 1 | ||
| 해부 | legs
|
scispacy | 1 | ||
| 해부 | limbs
|
scispacy | 1 | ||
| 약물 | rapamycin
|
C0072980
sirolimus
|
scispacy | 1 | |
| 질환 | trauma
|
C0043251
Wounds and Injuries
|
scispacy | 1 | |
| 질환 | lower limb gigantism
|
scispacy | 1 | ||
| 질환 | gigantism
|
C0017547
Gigantism
|
scispacy | 1 | |
| 질환 | adiposity
|
C0028754
Obesity
|
scispacy | 1 | |
| 질환 | sepsis
|
C0036690
Septicemia
|
scispacy | 1 | |
| 질환 | infected foot ulcer
|
scispacy | 1 | ||
| 질환 | ulcer
|
scispacy | 1 | ||
| 기타 | above-knee
|
scispacy | 1 |
MeSH Terms
Adult; Amputation, Surgical; Amputation Stumps; Class I Phosphatidylinositol 3-Kinases; Female; Gigantism; Humans; Immunosuppressive Agents; Lower Extremity; Postoperative Complications; Sirolimus
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