• Clinical science

Neurocutaneous syndromes

Abstract

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.

Definition

  • Neurocutaneous syndromes are inherited disorders that primarily affect the nervous system and the skin.

References:[1][2][3]

Epidemiology

References:[3]

Epidemiological data refers to the US, unless otherwise specified.

Etiology

Pathophysiology

References:[4][5][6]

Clinical features

Phakomatoses

Phakomatosis Clinical findings

Neurofibromatosis type 1 (von Recklinghausen disease)

Neurofibromatosis type 2

Ataxia telangiectasia (Louis–Bar syndrome)

  • Progressive cerebellar ataxia
  • Athetosis
  • Telangiectasias on the face and conjunctivae
  • Decreased immunocompetence
  • Oculomotor apraxia
Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
  • Port-wine stain (nevus flammeus/“birthmark” in the dermatome regions V1 and V2 of the face)
  • Vascular malformations of the choroid and the CNS (e.g. leptomeningeal angioma, often on the same side as the port-wine stain)
    • Early-onset glaucoma
    • Epilepsy or epileptic spasms in infancy
    • Intellectual disability

Tuberous sclerosis

von Hippel-Lindau disease

References:[8][4][5][7][9]

Diagnostics

General

  • Take family history
  • Genetic testing detects defective gene
  • Dermatological exam

Specific

References:[4][5][10][11][12]

Treatment

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

References:[11][12][13][14]