• Clinical science

Neurocutaneous syndromes


Neurocutaneous syndromes (phakomatoses) are a group of inherited diseases that affect various organs, most notably the central nervous system and skin. The most common neurocutaneous disorders are neurofibromatosis type I and II, tuberous sclerosis, Sturge-Weber syndrome, ataxia telangiectasia, and von Hippel-Lindau disease. These disorders usually follow an autosomal dominant pattern of inheritance and display characteristic skin findings. Neurofibromatosis type I, for example, typically presents with café au lait spots, Lisch nodules, and axillary freckling, in addition to multiple neurofibromas. The diagnosis is based on clinical findings and is confirmed by genetic testing. Treatment of these congenital disorders is symptom-oriented since there is no curative therapy available.


Neurocutaneous syndromes are inherited disorders that primarily affect the nervous system and the skin. [1][2]



Epidemiological data refers to the US, unless otherwise specified.




Clinical features


Phakomatosis Clinical findings

Neurofibromatosis type 1 (von Recklinghausen disease)

Neurofibromatosis type 2

Ataxia telangiectasia (Louis–Bar syndrome)

Sturge-Weber syndrome (encephalotrigeminal angiomatosis)

Tuberous sclerosis

von Hippel-Lindau disease







Since there are no curative treatment options available, treatment of neurocutaneous syndromes focuses on multidisciplinary symptom control.


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last updated 07/12/2020
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