Elephantiasis neuromatosa in neurofibromatosis type I

Hourani, Roula; Rizk, T.; Kung, Sophia; Boudghene, F

doi:10.1016/s0150-9861(06)77230-3

Cited by 9 publications

(4 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Frequent clinical manifestations of NF-1 include cutaneous lesions, skeletal abnormalities, and multiple nerve sheath tumors 4,5. Three types of neurofibromas are found in NF-1 patients: localized neurofibroma, plexiform neurofibroma (involving an entire extremity), and diffuse neurofibroma 6. More rarely, patients with NF-1 exhibit vasculopathy affecting the arteries,1 the veins, or even the lymph vessels 1,7,8.…”

Section: Discussionmentioning

confidence: 99%

Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema

Finsterer¹,

Stöllberger²,

Stubenberger³

et al. 2013

IJGM

View full text Add to dashboard Cite

BackgroundThis case report documents the affliction of the lymph vessels as a phenotypic feature of neurofibromatosis-1 (NF-1).MethodologyRoutine transthoracic echocardiography, computed tomography scan of the thorax, magnetic resonance angiography of the renal arteries, and conventional digital subtraction angiography were applied. Comprehensive NF-1 mutation analysis was carried out by fluorescence in situ hybridization analysis, long-range reverse transcriptase polymerase chain reaction, and multiple-ligation probe assay. All other investigations were performed using routine, well-established techniques.ResultsThe subject is a 34-year-old, half-Chinese male; NF-1 was suspected at age 15 years for the first time. His medical history included preterm birth, mild facial dysmorphism, “café au lait” spots, subcutaneous and paravertebral fibromas, multifocal tachycardia, atrial fibrillation, and heart failure in early infancy. Noncalcified bone fibromas in the femur and tibia were detected at age 8 years. Surgical right leg lengthening was carried out at age 11 years. Bilateral renal artery stenosis, stenosis and aneurysm of the superior mesenteric artery, and an infrarenal aortic stenosis were detected at age 15 years. Leg edema and ectasia of the basilar artery were diagnosed at age 18 years. After an episode with an erysipela at age 34 years, he developed pericardial and pleural effusion during a 4-month period. Stenosis of the left subclavian vein at the level of thoracic duct insertion was detected. After repeated pleural punctures, pleural effusion was interpreted as chylothorax. Reduction of lymph fluid production by diet and injection of talcum into the pleural cavity had a long-term beneficial effect on the chylothorax. Leg edema and chylothorax were attributed to affliction of the lymph vessels by the NF-1.DiscussionLymphangiopathy resulting in impaired lymph fluid flow and sequestration of lymph fluid into the pleural sinus and the legs may be a rare phenotypic feature of NF-1.

show abstract

Section: Discussionmentioning

confidence: 99%

Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema

Finsterer¹,

Stöllberger²,

Stubenberger³

et al. 2013

IJGM

View full text Add to dashboard Cite

show abstract

“…Among the radiological assessments, CT and MRI can provide many useful advantages for surgical planning. 6,7 Elephantiasis neuromatosa may involve hypervascularity and most reported cases have exhibited massive spontaneous bleeding. 3,7 In our case, a previous surgical attempt to debulk this lesion had resulted in massive blood loss and was not completed.…”

Section: Discussionmentioning

confidence: 99%

“…6,7 Elephantiasis neuromatosa may involve hypervascularity and most reported cases have exhibited massive spontaneous bleeding. 3,7 In our case, a previous surgical attempt to debulk this lesion had resulted in massive blood loss and was not completed. Pre-operative assessment of the vascular supply to such a huge mass seemed to be inevitable, considering the importance of controlling intra-operative bleeding.…”

Section: Discussionmentioning

confidence: 99%

A Case Report of Surgical Debulking for a Huge Mass of Elephantiasis Neuromatosa

Hoshi¹,

Ieguchi

Taguchi

et al. 2009

Rare Tumors

View full text Add to dashboard Cite

show abstract

“…This condition is termed elephantiasis neuromatosa (EN). 2–4 Changes in the vascular and lymphatic system, such as enlarged veins, 2 dilated lymphatics, 3 enlarged lymph nodes, 3,4 and dermal backflow, 4 have been observed in limbs enlarged by EN. Although surgery is the standard treatment for plexiform neurofibroma, 5 conservative treatment might be an option, especially for more complicated cases such as EN.…”

Section: Sirmentioning

confidence: 99%

A Boot Brace for Elephantiasis Neuromatosa Associated with Neurofibromatosis Type 1

Yoshinaga

Saito

2019

Plastic and Reconstructive Surgery - Global Open

View full text Add to dashboard Cite

Elephantiasis neuromatosa in neurofibromatosis type I

Cited by 9 publications

References 10 publications

Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema

Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema

A Case Report of Surgical Debulking for a Huge Mass of Elephantiasis Neuromatosa

A Boot Brace for Elephantiasis Neuromatosa Associated with Neurofibromatosis Type 1

Contact Info

Product

Resources

About