Neurofibromatosis with unilateral lower limb gigantism

Rani, Nicola; Devescovi, Valentina

doi:10.1007/s12306-009-0049-8

Cited by 5 publications

(2 citation statements)

References 8 publications

(16 reference statements)

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“…Loss of heterozygosity has been previously reported in TSC genes in multifocal micronodular pneumocyte hyperplasia, a rare pulmonary manifestation [Hayashi et al, 2010], as well as renal angiomyolipomas and pulmonary lymphangioleiomyomatosis [Smolarek et al, 1998;Yu et al, 2001;Sato et al, 2002]. The occurrence of localized tissue hyperplasia has also been reported in the case of other neurocutaneous disorders, including neurofibromatosis type 1 [Sabbioni et al, 2010] and Sturge-Weber syndrome [Greene et al, 2009;Babaji et al, 2013]. Neurofibromatosis type 1 is caused by mutations in NF1, a well-known tumor suppressor gene [DeClue et al, 1992].…”

Section: Discussionmentioning

confidence: 98%

Macrodactyly in tuberous sclerosis complex: Case report and review of the literature

Sá

Moldovan

Sousa

2016

American J of Med Genetics Pt A

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Macrodactyly in the context of tuberous sclerosis complex (TSC) is a known but rare manifestation. We report the case of a boy diagnosed with TSC at 2 years and 4 months of age, presenting with bilateral macrodactyly of the first three fingers of both hands, with underlying radiographic changes, in whom molecular analysis identified a frameshift mutation on the TSC1 gene (encoding hamartin), leading to a premature stop codon. We reviewed the literature for reported cases of TSC patients with the same manifestation. In four of 14 patients, including ours, macrodactyly caused some type of joint limitation or flexion deformity, thus contradicting the established idea that this is a finding without clinical significance. Our patient is, to our knowledge, the first reported to have clear bilateral involvement. We briefly discuss the underlying mechanism for this phenomenon, which has yet to be fully elucidated, although somatic mosaicism for loss of heterozygosity at TSC loci is a plausible explanation. © 2016 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 98%

Macrodactyly in tuberous sclerosis complex: Case report and review of the literature

Sá

Moldovan

Sousa

2016

American J of Med Genetics Pt A

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“…There are a number of case reports and series found in the literature discussing giant neurofibromas [7][8][9][10][11][12][13][14][15][16]. PNFs are difficult to manage surgically as they are extensively infiltrative, highly vascularized and tend to recur.…”

Section: Introductionmentioning

confidence: 99%

Life Threatening Complications following Excision of Giant Neurofibroma

Choi

Kyung

et al. 2017

J Wound Management Res

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Plexiform neurofibromas are benign tumors originating from subcutaneous or visceral peripheral nerves, which are usually associated with neurofibromatosis type 1. Giant neurofibromas are very difficult to manage surgically as they are extensively infiltrative and highly vascularized. These types of lesions require complex preoperative and postoperative management strategies. This case report describes a 22-year-old female with a giant plexiform neurofibroma of the lower back and buttock who underwent pre-operative embolization and intraoperative use of a linear cutting stapler system to assist with haemostasis during the surgical resection. Minimal blood transfusion was required and the patient made a good recovery. This case describes how a multidisciplinary management of these large and challenging lesions is technically feasible and appears to be beneficial in reducing perioperative blood loss and morbidity. Giant neurofibroma is a poorly defined term used to describe a neurofibroma that has grown to a significant but undefined size. Through a literature review, we propose that the term "giant neurofibroma" be used for referring to those neurofibromas weighing 20% or more of the patient's total corporal weight.

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