Cutaneous manifestations of tuberous sclerosis complex: An uncommon entity

Cutaneous 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...

Topical Rapamycin Therapy to Alleviate the Cutaneous Manifestations of Tuberous Sclerosis Complex

BACKGROUND AND OBJECTIVES Facial angiofibromas are disfiguring facial lesions, present in up to 80% of patients with tuberous sclerosis complex. Recent elucidation of the complex cell signaling pathways that are disrupted in tuberous sclerosis indicates that rapamycin may be successful in alleviating the appearance of these lesions. The objectives of the current study were to evaluate the safet...

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...

CNS 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...

SPETRUM OF ABDOMINAL IMAGING FINDINGS IN TUBEROUS SCLEROSIS: The common and uncommon manifestations