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Extended matching item (EMI)
Published in Tristan Barrett, Nadeem Shaida, Ashley Shaw, Adrian K. Dixon, Radiology for Undergraduate Finals and Foundation Years, 2018
Tristan Barrett, Nadeem Shaida, Ashley Shaw, Adrian K. Dixon
Match the radiological findings listed to the relevant phakomatosis listed above. CT abdomen shows cysts within the pancreas, multiple bilateral cystic and solid lesions within the kidney and bilateral irregular solid adrenal lesions. MRI head shows a cystic / enhancing lesion within the cerebellum.MRI head shows a strongly enhancing extra-axial lesion in the fronto-parietal region and bilateral enhancing lesions within the vestibulocochlear nerves.CT abdomen shows bilateral solid renal lesions which are seen to contain fat and enhance following contrast administration, and bilateral renal cysts. CT chest shows diffuse replacement of the lung parenchyma by thin-walled cysts measuring 2–20 mm in diameter, with a lower zone predominance.
How to master MCQs
Published in Chung Nen Chua, Li Wern Voon, Siddhartha Goel, Ophthalmology Fact Fixer, 2017
There are nine conditions classified under phakomatoses and their genetic loci are as follows: neurofibromatosis type I -autosomal dominant -chromosome 17type II — autosomal dominant — chromosome 22tuberous sclerosis - autosomal dominant - chromosome 9Sturge-Weber's syndrome — sporadicvon Hippel-Lindau's syndrome -autosomal dominant -chromosome 3Louis-Bar syndrome-autosomal recessive - chromosome 11Wyburn-Mason syndrome -sporadicKlippel-Trenaunay-Weber syndrome - autosomal dominant - chromosome unknowncutis marmarata telangiectasia congenita - sporadic.
Melanocytic Tumors
Published in Dongyou Liu, Tumors and Cancers, 2017
Meningeal melanocytosis (or diffuse melanocytosis/melanosis) is a diffuse infiltration of the subarachnoid space of the brain and spinal cord by melanocytes, possibly associated with neurocutaneous melanosis. The latter is a phakomatosis caused by congenital dysplasia of the neuroectodermal melanocyte precursor cells, leading to excessive (focal or diffuse) proliferation of melanin-producing cells in the skin and leptomeninges [2].
Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome
Published in Ophthalmic Genetics, 2021
Martina Formisano, Maria Chiara di Pippo, Luca Scuderi, Solmaz Abdolrahimzadeh
The original diagnostic triad of SWS included ipsilateral leptomeningeal angiomatosis, unilateral facial naevus flammeus and congenital glaucoma. However, diagnosis of SWS may be made with any two of three signs of capillary malformation affecting the leptomeninges, face, or eye. This syndrome has occasionally been included in the phakomatoses because of its neuro-oculo-cutaneous manifestations; however, unlike other phakomatoses, SWS is not a hereditary disorder (3,4). The eye is involved in over 50% of patients with SWS and the main manifestations are glaucoma and DCH with possible visual loss owing to complications such as exudative retinal detachment and its later manifestations (3). Clinical diagnosis of non-symptomatic DCH can be challenging due to subtle pigmentary changes of the fundus and difficulty in examining young patients. Therefore, ancillary tests with multimodal imaging are mandatory in order to diagnose and manage DCH. The pathogenesis, methods of examination, and treatment options of this condition should be clear to ophthalmologists.
Current concepts on ocular vascular abnormalities in the phakomatoses
Published in Seminars in Ophthalmology, 2021
Alessandro de Paula, Solmaz Abdolrahimzadeh, Serena Fragiotta, Mariachiara Di Pippo, Gianluca Scuderi
A few cases of the concomitant presence of classical phakomatoses in other neuro-ocular diseases with vascular alterations have been described in the literature. TSC has been described together with Sturge Weber syndrome (SWS), a neuro oculocutaneous disease frequently included in phakomatoses by some authors,150–158 where facial, leptomeningeal, and choroidal angiomatosis are characteristic features. The association between NF1 and SWS has also been reported.159–161 These cases could be valuable in determining a possible common pathogenetic mechanism in phakomatoses. An abnormal migration of neural crest cells was suggested as a possible explanation for this rare association.155,156