A rare case of giant renal angiomyolipoma in a woman with tuberous sclerosis

Fragkoulis, Charalampos; Stasinopoulos, Konstantinos; Theocharis, Georgios; Stathouros, Georgios; Παπαδόπουλος, Γεώργιος; Kostopoulou, Akrivi; Bethany-Michaelides, Mariana; Ntoumas, Konstantinos

doi:10.1016/j.eucr.2018.06.006

Cited by 3 publications

(3 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Clinical manifestations of AML include abdominal pain, distention and hematuria, although small masses are often asymptomatic. 1 …”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Giant renal angiomyolipoma: A case report

Al-Hajjaj

2021

Urology Case Reports

View full text Add to dashboard Cite

Renal angiomyolipoma (AML) is a rare type of renal tumor. It consists of blood vessels, smooth muscle components, and mature adipose tissue. We report a rare case of giant renal angiomyolipoma in 36 years old male who had two months of intermittent mild abdominal pain. Computed tomography showed a right renal mass with 35 cm in diameter. The mass was removed by surgery successfully. The patient had a good health course after surgery.

show abstract

“…Clinical manifestations of AML include abdominal pain, distention and hematuria, although small masses are often asymptomatic. 1 …”

Section: Discussionmentioning

confidence: 99%

“…It is composed of a mix of dysmorphic blood vessels, smooth muscle components, and mature adipose tissue. 1 …”

Section: Introductionmentioning

confidence: 99%

Giant renal angiomyolipoma: A case report

Al-Hajjaj

2021

Urology Case Reports

View full text Add to dashboard Cite

show abstract

“…41 Moreover, unilateral overgrowth of a limb 17,58 and 'diffuse' lipomatosis involving a leg 15,46 or the thoracic wall 45 could also be categorized among the extracutaneous manifestations of this particular form of mosaicism. -So far, the question cannot be settled whether some cases of unilateral giant renal angiomyolipoma [59][60][61][62] may also reflect superimposed mosaicism, because a bilateral involvement is rather often reported. 63,64…”

Section: Extracutaneous Manifestations Of Superimposed Mosaicismmentioning

confidence: 99%

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Happle

Torrelo

2020

Acad Dermatol Venereol

View full text Add to dashboard Cite

In patients with tuberous sclerosis, we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary non-segmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage. So far, the second category has been called 'type 2 segmental mosaicism', but here we propose the short and unambiguous term 'superimposed mosaicism'. In order to render physicians familiar with the manifold manifestations of this category as noted in tuberous sclerosis, we review the following clinical designations under which cases suggesting superimposed mosaicism have been published: forehead plaque; shagreen patch; fibrous cephalic plaque; fibromatous lesion of the scalp; folliculocystic and collagen hamartoma; segmental hypomelanosis; congenital segmental lymphedema; and segmental 'diffuse' lipomatosis. Molecular corroboration of this genetic concept has been provided in a case of forehead plaque and in a child with shagreen patch.-Extracutaneous manifestations suggesting superimposed mosaicism include columnar tuberous brain defects; 'radial migration lines' or 'cerebral white matter migration lines' as noted by brain imaging; linear hamartomatous lesions of the tongue; fibrous dysplasia of bones including macrodactyly; and unilateral overgrowth of an arm or leg.-Remarkably, superimposed mosaicism appears to occur in tuberous sclerosis far more frequently than simple segmental mosaicism.

show abstract

A Life-threatening Case of Giant Bilateral Renal Angiomyolipoma: A Case Report

Mehdi

2024

Arch Case Rep

View full text Add to dashboard Cite

Renal angiomyolipoma (AML) is a rare tumor with an incidence of 0.3% - 3%. We reported a case of a 41-year-old male patient who presented with gross hematuria and hemorrhagic shock, due to a right giant angiomyolipoma he underwent urgent right nephrectomy by subcostal laparotomy, total weight of the mass was 6 Kg, histological examination concluded in a renal angiomyolipoma. Treatment of renal AML depends on the clinical presentation, tumor size, and single or multiple lesions: single small (< 4 cm) asymptomatic lesions require only clinical and radiological follow-up, however giant symptomatic (hematuria), life-threatening masses require urgent multidisciplinary treatment and especially surgery. Giant renal bilateral AML is very rare, conservative treatment in the absence of hemorrhage should always be first proposed to preserve renal function as possible.

show abstract

A rare case of giant renal angiomyolipoma in a woman with tuberous sclerosis

Cited by 3 publications

References 6 publications

Giant renal angiomyolipoma: A case report

Giant renal angiomyolipoma: A case report

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

A Life-threatening Case of Giant Bilateral Renal Angiomyolipoma: A Case Report

Contact Info

Product

Resources

About