Congenital lymphedema: Another unique and gender specific stigmata of tuberous sclerosis?

Sukulal, Kiron; Namboodiri, Narayanan

doi:10.1007/s13312-012-0178-2

Cited by 11 publications

(9 citation statements)

References 4 publications

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“…Like the six previously reported cases of concurrent congenital lymphedema and TSC, our two patients with congenital lymphedema were female [Cottafava et al, ; Hirsch et al, ; Voudris et al, ; Lucas et al, ; Sukulal et al, ; Prato et al, ]. The predominance of lymphedema in females with TSC is also found in the general population with lymphedema (80% and 91% of congenital lymphedema and lymphedema praecox, respectively) [Wolfe et al, ; Wright et al, ].…”

Section: Discussionsupporting

confidence: 69%

“…Lymphedema was reported in 4% (10 [6 females, 4 males] of 268) of patients with TSC. The clinical findings in the two patients with congenital lymphedema are depicted in Table along with the six previously reported cases (Patients A–F) [Cottafava et al, ; Hirsch et al, ; Voudris et al, ; Lucas et al, ; Sukulal et al, ; Prato et al, ]. Seven patients were diagnosed with lymphedema at a young age (before 38 years of age).…”

Section: Resultsmentioning

confidence: 88%

“…Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC) [Voudris et al, ] and there are only six published case reports of congenital lymphedema in patients with TSC [Cottafava et al, ; Hirsch et al, ; Voudris et al, ; Lucas et al, ; Sukulal et al, ]. The frequency of congenital lymphedema in TSC is unknown; acquired lymphedema has not previously been described in TSC.…”

Section: Introductionmentioning

confidence: 99%

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Lymphedema in tuberous sclerosis complex

Geffrey

Shinnick

Staley

et al. 2014

American J of Med Genetics Pt A

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Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pathway. The aim of this study is to review cases of lymphedema in a large cohort of TSC patients. The medical records of 268 patients seen at The Herscot Center for Children and Adults with Tuberous Sclerosis Complex at the Massachusetts General Hospital from 2002 to 2012 were retrospectively reviewed for reports of lymphedema or edema of unknown etiology. Genotypic and phenotypic data were collected in accordance with institutional review board (IRB) approval. This cohort presents two new cases of congenital lymphedema in TSC patients and acquired lymphedema was found in eight additional cases. Thus, we report 10 new cases of lymphedema in TSC (4%). The two patients with congenital lymphedema were female, as were the previous six reported cases. The frequency of lymphedema reported here (4%) is higher than the estimated prevalence in the general population (0.133-0.144%), suggesting a higher frequency of lymphedema in TSC. This study shows that patients with TSC and lymphedema are more likely to be females with renal AMLs and suggests that congenital lymphedema is a gender-specific (female) manifestation of TSC. Exploration of the potential role of mTOR antagonists may be important in treatment of lymphedema in TSC patients.

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Section: Discussionsupporting

confidence: 69%

Section: Resultsmentioning

confidence: 88%

Section: Introductionmentioning

confidence: 99%

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Lymphedema in tuberous sclerosis complex

Geffrey

Shinnick

Staley

et al. 2014

American J of Med Genetics Pt A

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“…[8][9][10][11][12] Interestingly, all cases were in females and in 4 patients the left lower limb was implicated. [8][9][10][11][12] Interestingly, all cases were in females and in 4 patients the left lower limb was implicated.…”

Section: Resultsmentioning

confidence: 99%

“…4 An association between lower limb lymphoedema and tuberous sclerosis has previously been described in the literature, [8][9][10][11][12] although it has been suggested to occur only in female patients. In fact, 90% of patients demonstrate cutaneous lesions, 90% suffer from symptoms secondary to cerebral lesions including seizures, 70% to 90% have kidney lesions (angiomyolipomas are not present at birth and appear later), 50% have retinal hamartomas, and cardiac rhabdomyomas, which are present in the fetus, tend to regress spontaneously during childhood.…”

Section: Discussionmentioning

confidence: 99%

Lymphoedema in Tuberous Sclerosis

Navarre

Poitras

2014

Journal of Pediatric Orthopaedics

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Thoracoabdominal imaging of tuberous sclerosis

Morin

Franz

et al. 2018

Pediatr Radiol

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Imaging of tuberous sclerosis complex has rapidly evolved over the last decade in association with increased understanding of the disease process and new treatment modalities. Tuberous sclerosis complex is best known for the neurological symptoms and the associated neuroimaging findings, and children with tuberous sclerosis complex require active surveillance of associated abnormalities in the chest, abdomen and pelvis. Common findings that require regular imaging surveillance are angiomyolipomas in the kidneys and lymphangioleiomyomatosis in the chest. However multiple rarer associations have been attributed to tuberous sclerosis complex and should be considered by radiologists reviewing any imaging in these children. In this review the authors discuss the spectrum of imaging findings in people with tuberous sclerosis complex, focusing on MR imaging findings in the chest, abdomen and pelvis.

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Congenital lymphedema: Another unique and gender specific stigmata of tuberous sclerosis?

Cited by 11 publications

References 4 publications

Lymphedema in tuberous sclerosis complex

Lymphedema in tuberous sclerosis complex

Lymphoedema in Tuberous Sclerosis

Thoracoabdominal imaging of tuberous sclerosis

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