Surgical trauma induces overgrowth in lower limb gigantism: regulation with use of rapamycin is promising.

BMJ case reports 2018 Vol.2018()

Pinto RS, Harrison WD, Graham K, Nayagam D

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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)

유형영어 표현한국어 / 풀이UMLS CUI출처등장
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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