Operative resection is a viable treatment of macrodactyly of the foot caused by lipofibromatous hamartoma: A case study with 5 year follow-up

Fransen, Bas L.; Broeders, Maud G.J.; Oosterom, Frederik J.T. van; Gilhuijs, Nathalie D.B.; Burger, Bart J.

doi:10.1016/j.fas.2014.05.002

Cited by 10 publications

(5 citation statements)

References 12 publications

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“…Macrodactyly is a rare nonhereditary congenital disorder characterized by enlargement of bone and soft tissues in digits or limbs, which is considered as a benign tumor-like condition 1 . Its incidence is estimated to be 1:18,000 2,3 .…”

Section: Introductionmentioning

confidence: 99%

Activating PIK3CA mutation promotes adipogenesis of adipose-derived stem cells in macrodactyly via up-regulation of E2F1

et al. 2020

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Macrodactyly is a congenital malformation characterized by enlargement of bone and soft tissues in limbs, typically with excessive accumulation of adipose tissues. Although gain-of-function mutation of PIK3CA has been identified in macrodactyly, the mechanism of PIK3CA mutation in adipose accumulation is poorly understood. In this study, we found that adipocytes from macrodactyly were more hypertrophic than those observed in polydactyly. PIK3CA (H1047R) activating mutation and enhanced activity of PI3K/AKT pathway were detected in macrodactylous adipose-derived stem cells (Mac-ADSCs). Compared to polydactyly-derived ADSCs (Pol-ADSCs), Mac-ADSCs had higher potential in adipogenic differentiation. Knockdown of PIK3CA or inhibition by BYL-719, a potent inhibitor of PIK3CA, impaired adipogenesis of Mac-ADSCs in vitro. In vivo study, either transient treatment of ADSCs or intragastrical gavage with BYL-719 inhibited the adipose formation in patient-derived xenograft (PDX). Furthermore, RNA-seq revealed that E2F1 was up-regulated in Mac-ADSCs and its knockdown blocked the PIK3CA-promoted adipogenesis. Our findings demonstrated that PIK3CA activating mutation promoted adipogenesis of ADSCs in macrodactyly, and that this effect was exerted by the up-regulation of E2F1. This study revealed a possible mechanism for adipose accumulation in macrodactyly and suggested BYL-719 as a potential therapeutic agent for macrodactyly treatment.

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Section: Introductionmentioning

confidence: 99%

Activating PIK3CA mutation promotes adipogenesis of adipose-derived stem cells in macrodactyly via up-regulation of E2F1

et al. 2020

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“…Lipofibromatous hamartoma (LFH) is a rare, benign peripheral nerve tumor that most commonly affects the median nerve but can also occur in other peripheral nerves [1][2][3]. Affected individuals may experience swelling of the tissue, and the nerve may increase in length and diameter in the affected area and may be associated with macrodactyly [4].…”

Section: Introductionmentioning

confidence: 99%

Use of Ultra-high-frequency Ultrasound on Diagnosis and Management of Lipofibromatous Hamartoma: A Technical Report

Boczar

Forte

Serrano

et al. 2019

Cureus

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“…Clinically, the multiple overgrowth of bone and soft tissue is often assessed by X-rays or magnetic resonance imaging (MRI) ( Fig 1B and 1C ); however, these methods are not sensitive to detect the nerve enlargement and functional damage. According to previous studies, amputation or debulking by excising a portion of the involved tissue is the main treatment method, and the enlarged nerve is usually excised simultaneously because of the amount of space it occupies[ 3 , 5 , 6 ]; However, nerve function impairment and the possible compensatory pattern of type II macrodactyly are rarely studied for the selection of therapy.…”

Section: Introductionmentioning

confidence: 99%

Morphological and neurophysiological impairment of the nerve in type II macrodactyly

et al. 2018

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BackgroundMacrodactyly is a congenital malformation characterized by aggressive overgrowth of multiple tissues, including subcutaneous fat, nerves, and bones in digits or limbs. In type II macrodactyly, the peripheral nerve is enlarged; however, the morphological and functional characteristics of the affected peripheral nerves have rarely been evaluated.MethodsIn this research, six macrodactyly patients and three polydactyly patients (control) were studied. Pre-operative sensory nerve action potential and intra-operative nerve action potential tests were performed. The microstructure and ultrastructure of the enlarged nerves were observed and neurofilament (NF) expression was evaluated using immunofluorescent staining.ResultsAxon impairment of the digital nerves originating from the median nerve (MN) was observed. A compensatory reinnervation from the ulnar nerve (UN) was found in two of the six patients, and significant morphological changes were observed in the enlarged nerve. The myelinated nerve fibers decreased, the lamellar structure of the myelin sheath changed, and the density of the NFs of the unmyelinated fibers decreased. There was aberrant distribution of NFs in the macrodactylous nerve tissues. In patients with compensatory UN reinnervation, the number of myelinated and unmyelinated fibers increased to normal levels; however, the diameter of the myelinated fibers apparently decreased.ConclusionsThe morphology and function of the macrodactylous enlarged nerve was impaired in type II macrodactyly patients; however, the unaffected UN partially compensated for the lost function of the affected MN under specific situations. Electrophysiological tests should be performed to determine the function of the affected nerve and surgical treatment for type II macrodactyly could be refined.

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Operative resection is a viable treatment of macrodactyly of the foot caused by lipofibromatous hamartoma: A case study with 5 year follow-up

Cited by 10 publications

References 12 publications

Activating PIK3CA mutation promotes adipogenesis of adipose-derived stem cells in macrodactyly via up-regulation of E2F1

Activating PIK3CA mutation promotes adipogenesis of adipose-derived stem cells in macrodactyly via up-regulation of E2F1

Use of Ultra-high-frequency Ultrasound on Diagnosis and Management of Lipofibromatous Hamartoma: A Technical Report

Morphological and neurophysiological impairment of the nerve in type II macrodactyly

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