Neural, renal and retinal hamartomas with cutis vertis gyrata a rare presentation in tuberous sclerosis complex
نویسندگان
چکیده
منابع مشابه
Secondary cutis verticis gyrata in a patient with tuberous sclerosis?
Cutis verticis gyrata (CVG) is characterized by the presence of circumvolutions and deep grooves that imitate the cerebral surface; it is more frequent in men and is classified into primary or secondary types. The secondary type is associated with systemic diseases such as acromegaly and tuberous sclerosis, inflammatory dermatosis such as psoriasis and eczema, and numerous skin tumors like plex...
متن کاملMesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas.
Patients with tuberous sclerosis complex (TSC) develop hamartomas containing biallelic inactivating mutations in either TSC1 or TSC2, resulting in mammalian target of rapamycin (mTOR) activation. Hamartomas overgrow epithelial and mesenchymal cells in TSC skin. The pathogenetic mechanisms for these changes had not been investigated, and the existence or location of cells with biallelic mutation...
متن کاملTuberous sclerosis complex renal disease.
Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal sur...
متن کاملTuberous Sclerosis Complex Renal Disease
Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal sur...
متن کاملLoss of heterozygosity in tuberous sclerosis hamartomas.
We have previously described in tuberous sclerosis (TSC) hamartomas the phenomenon of loss of heterozygosity (LOH) for DNA markers in the region of both the TSC2 gene on chromosome 16p13.3 and the TSC1 gene on 9q34. We now describe the spectrum of LOH in 51 TSC hamartomas from 34 cases of TSC. DNA was extracted from leucocytes or normal paraffin embedded tissue, and from frozen paraffin embedde...
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ژورنال
عنوان ژورنال: International Journal of Research in Medical Sciences
سال: 2015
ISSN: 2320-6071
DOI: 10.18203/2320-6012.ijrms20151201