Neurocutaneous syndromes

Characterised by tumours (schwannomas) of the eighth cranial nerve (vestibular division). 1:50 000

Autosomal dominant gene on chromosome 22.

Previously called Phakomatoses - Phakos Greek: birthmark

These disorders are hereditary, characterised by multiorgan malformations and tumours. The literature includes many varieties of such conditions; most are extremely rare. Only the more major disorders are described below.


Two distinct types occur: Type 1 (NF1)

Characterised by café au lait spots and neurofibromas (Von Recklinghausen's disease). Incidence: 1:4000

Inheritance: Autosomal dominant gene on chromosome 17 with a spontaneous mutation rate of 50%. Pathology (type 1):

An cmbryological disorder in which localised overgrowth of mesodermal or ectodermal tissue produces tumours of:

meninges vascular system skin, viscera peripheral and central nervous systems

Pathology (type 2): Sec page 385 Clinical features (type 1): Skin manifestations:— Café au lait spots:

with well demarcated edges. Subcutaneous neurofibromata lying along peripheral nerves and enlarging with age. Mollusca fibrosa: cutaneous fibromas - large, pedunculated and pink in colour.

Plexiform neuroma: diffuse neurofibroma associated with skin and subcutaneous overgrowth I

and occasional underlying bony abnormality. Skeletal manifestations: — 50% of patients exhibit scoliosis.

Subperiosteal neurofibromas may give rise to bone hypertrophy or rarification with pathological fractures. Sphenoid wing dysplasia is a rare but diagnostic abnormality. Ocular:- Lisch nodules are melanocytic hamartomas of the iris and arc seen on slit-lamp examination in 90% of patients

Neoplasia: - A high incidence of leukemia, neuroblastoma, medullary thyroid carcinoma, and multiple endocrine neoplasia occurs.

Neurological manifestations: - Mental retardation and epilepsy occur in 10-15% of patients without intracranial neoplasm.

Cerebrovascular accidents as a consequence of intimal hyperplasia arc not uncommon. Three patterns of neurological neoplasia are recognised:

1. Intracranial neoplasms: 2. Intraspinal neoplasms: 3.

Meningioma Neurofibroma Glioma.

meninges vascular system skin, viscera peripheral and central nervous systems

Intracranial neoplasms: Optic nerve glioma Multiple meningioma.

Peripheral nerve neoplasms: Neurofibroma - a proportion of which become sarcomatous.

Clinical features (type 2)

Skeletal manifestations are absent. Café au lait spots rare. Posterior subcapsular cataracts occur in 50% of cases. Eighth nerve tumours are bilateral.

Other intracranial and intraspinal neoplasms occasionally occur.

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