Double Phakomatosis

A rare association of neurofibromatosis type 1 with Sturge-Weber syndrome

“…There are many case reports of simultaneous occurrence of NF1 with tuberous sclerosis [4]. We found a few case reports of NF-1 with SWS diagnosed in adults [5][6][7]. No such case has been diagnosed in childhood.…”

A rare association of neurofibromatosis type 1 with Sturge-Weber syndrome

“…There are many case reports of simultaneous occurrence of NF1 with tuberous sclerosis [4]. We found a few case reports of NF-1 with SWS diagnosed in adults [5][6][7]. No such case has been diagnosed in childhood.…”

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: A case report highlighting the role of multimodal imaging and a brief review of the literature

“…A review of the literature suggests that the pathogenesis of the angiomatosis in SWS is still not completely understood. Some authors have suggested that it is related to altered innervation of perivascular vessels due to neural crest cell abnormalities as it is hypothesized that altered vasomotor regulation leads to the formation of phakomas and the nevus flammeus; indeed, co-existence of more than one phakomatosis in the same individual has also been reported 17, 18, 19, 20, 21, 22, 23. Other theories suggest persistence of primordial sinusoidal vascular channels or dysplasia of the emissary veins in the peripheral intracranial circulation resulting in increased retrograde venous pressure within the communicating vessels and the superficial venous plexus of the skin 1 .…”

Sturge Weber–Like Gyral Calcification Seen in Tuberous Sclerosis Complex 1

“…Specific genotypes have also been identified. Rarely manifestations of separate entities may coexist in a single individual, a condition that is referred to as “double phakomatoses.” 1 We report a girl with clinical and histopathologic phenotypes and genotype of tuberous sclerosis complex type 1, some atypical neurocutaneous findings and extensive gyral calcification usually reported in Sturge Weber syndrome.…”

A rare association of neurofibromatosis type 1 with Sturge-Weber syndrome

“…There are many case reports of simultaneous occurrence of NF1 with tuberous sclerosis [4]. We found a few case reports of NF-1 with SWS diagnosed in adults [5][6][7]. No such case has been diagnosed in childhood.…”

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: A case report highlighting the role of multimodal imaging and a brief review of the literature

“…A review of the literature suggests that the pathogenesis of the angiomatosis in SWS is still not completely understood. Some authors have suggested that it is related to altered innervation of perivascular vessels due to neural crest cell abnormalities as it is hypothesized that altered vasomotor regulation leads to the formation of phakomas and the nevus flammeus; indeed, co-existence of more than one phakomatosis in the same individual has also been reported 17, 18, 19, 20, 21, 22, 23. Other theories suggest persistence of primordial sinusoidal vascular channels or dysplasia of the emissary veins in the peripheral intracranial circulation resulting in increased retrograde venous pressure within the communicating vessels and the superficial venous plexus of the skin 1 .…”

Sturge Weber–Like Gyral Calcification Seen in Tuberous Sclerosis Complex 1

“…Specific genotypes have also been identified. Rarely manifestations of separate entities may coexist in a single individual, a condition that is referred to as “double phakomatoses.” 1 We report a girl with clinical and histopathologic phenotypes and genotype of tuberous sclerosis complex type 1, some atypical neurocutaneous findings and extensive gyral calcification usually reported in Sturge Weber syndrome.…”

A rare association of neurofibromatosis type 1 with Sturge-Weber syndrome

“…There are many case reports of simultaneous occurrence of NF1 with tuberous sclerosis [4]. We found a few case reports of NF-1 with SWS diagnosed in adults [5][6][7]. No such case has been diagnosed in childhood.…”

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: A case report highlighting the role of multimodal imaging and a brief review of the literature

“…A review of the literature suggests that the pathogenesis of the angiomatosis in SWS is still not completely understood. Some authors have suggested that it is related to altered innervation of perivascular vessels due to neural crest cell abnormalities as it is hypothesized that altered vasomotor regulation leads to the formation of phakomas and the nevus flammeus; indeed, co-existence of more than one phakomatosis in the same individual has also been reported 17, 18, 19, 20, 21, 22, 23. Other theories suggest persistence of primordial sinusoidal vascular channels or dysplasia of the emissary veins in the peripheral intracranial circulation resulting in increased retrograde venous pressure within the communicating vessels and the superficial venous plexus of the skin 1 .…”

Sturge Weber–Like Gyral Calcification Seen in Tuberous Sclerosis Complex 1

“…Specific genotypes have also been identified. Rarely manifestations of separate entities may coexist in a single individual, a condition that is referred to as “double phakomatoses.” 1 We report a girl with clinical and histopathologic phenotypes and genotype of tuberous sclerosis complex type 1, some atypical neurocutaneous findings and extensive gyral calcification usually reported in Sturge Weber syndrome.…”