Multiple ungual fibromas as an only cutaneous manifestation of tuberous sclerosis complex
نویسندگان
چکیده
منابع مشابه
Tuberous sclerosis complex: an update
Fanling Integrated Treatment Centre, 6/F, Fanling Health Centre, 2 Pik Fung Road, Fanling, New Territories Tuberous sclerosis complex (TSC), a rare autosomal dominant neurocutaneous syndrome, may be caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuberin respectively. It is characterised by cutaneous changes, neurologic conditions and the formation of hamartomas in mul...
متن کاملCutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. TSC-related skin lesions often develop early in life and can be disfiguring, emotionally distressful and even painful at times. Recognition of TSC-associated skin features by paediat...
متن کاملFacial Angiofibromas and Periungual Fibromas in Tuberous Sclerosis
A 78-year-old woman with chronic kidney disease visited our emergency department due to pain in her right flank. Abdominal computed tomography revealed perirenal hematoma and angiomyolipomas, and transcatheter arterial embolization was performed. Angiography also showed bilateral renal aneurysms. A physical examination revealed several red papules (facial angiofibromas) (Picture 1) and skincolo...
متن کاملCNS and cutaneous involvement in tuberous sclerosis complex.
A 13-year-old boy with tuberous sclerosis complex (TSC) presented with a painless, gradually progressive area of thickened skin in the occipito-cervical region corresponding to a giant shagreen patch (Figure A). Physical examination demonstrates facial angiofibromas (Figure B) and periungual fibromas. He also presented mental retardation and tonic-clonic seizures. MRI revealed a subependymal no...
متن کاملCortical blindness as severe neuro-ophthalmological manifestation of tuberous sclerosis complex
Patients with retinal lesions related to tuberous sclerous complex (TSC) commonly have no impairment of visual acuity. We present a case of a 1-year-old Hispanic girl with TSC in which bilateral cortical blindness is documented.
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology, and Leprology
سال: 2014
ISSN: 0378-6323
DOI: 10.4103/0378-6323.140318