Von Hippel-Lindau
Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant, multisystem disorder characterised by the formation of tumours and cysts in...
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Sturge-Weber Syndrome
Sturge-Weber Syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a neurocutaneous disorder with vascular skin lesions (port-wine stains), leptomeningeal angiomatosis,... -
Tuberous Sclerosis
Tuberous sclerosis complex, a neurocutaneous disorder primarily affecting children, is characterised by facial angiomas, multiple benign calcified multi-organ hamartomas, epileptogenic... -
Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a common autosomal dominant disorder characterised by multiple cutaneous...