Deeper than Skin-deep:

Neurocutaneous Syndromes

A. P. Ndondo

V. Ramanjam

Syndromes

� Neurofibromatosis – type1/2 (NF1)

� Tuberous Sclerosis Complex (TSC)

� Sturge-Weber Syndrome (SWS)

� Hypomelanosis of Ito

� Incontinentia Pigmenti

� Epidermal Nevus Syndrome

� Giant Cong. Melanocytic Nevus Syndrome

� Ataxia Telangiectasia

� Von Hippel-Lindau Disease (Cerebellar

Hemangioblastoma)

Common features

� Congenital or hereditary

� Involvement of organs of ectodermal origin

- nervous system

- skin

- eyeball / retina

� Generally slowly evolving through childhood

� Dysplastic lesions => Neoplastic tendency

� Malignant transformation predilection

Some exceptions

� Sporadic

- SWS

- Hypomelanosis of Ito

� Mesenchymal

- SWS

- von Hippel-Lindau

Neurocutaneous Clinic

� 10 years (since 2001)

� Multi-disciplinary

� Only one in the country

� Serves local, provincial and national

� Once a month

� Last Friday of the month

� All syndromes except TSC

Benefits of a multidisciplinary service

� ‘One Stop’ centralised, holistic approach

� Patients receive expert medical care, counselling and advice together

� Families seen together

� Better attendance and compliance

PlayersIn the clinic

� Paediatric Neurologists

� Developmentalists

� Neurosurgeons

� Genetic counsellor

Easily accesible and ‘linked-in’

� Eye clinic

� Orthopaedics

� Plastic surgery

� Paediatric surgeons

� Dermatology

Spectrum @ RXH neurocutaneous clinic

� Database (denominator): n = 5200

� Neurocutaneous: n = 165+

(excludes TSC)

� NF1: n = 129

� SWS: n = 17

� Hypomelanosis of Ito: n = 18

� GCMNS: n = 2

� Incontinentia Pigmenti: n = 1

Not routinely followed-up @ NCC

� TSC

� Hypomelanosis of Ito

� Incontinentia Pigmenti

� Cutis Mamorata

� Klippel-Trenaunay-Weber syndrome

� Encephalocranio-cutaneous lipomatosis

� Ataxia Telangiectasia

Tuberous Sclerosis Complex

� Autosomal Dominant

� Variable expression

� TSC1 – chrom 9q34 (>familial; milder)

� TSC2 – chrom 16p13.3 (contiguous APCKD)

� Major and Minor features

� Definite TS = 2 major or 1 major + 2 minor

� Clinical features evolve with age

� New breakthrough = Rapamycin (mTOR)

TSC

Sturge-Weber Syndrome

Sturge-Weber Syndrome� Angiomas involving the leptomeninges, and

skin of the face, typically ophthalmic and

maxillary distributions of Trigeminal N

Roach Classification:

Type 1: facial + leptomeningeal angiomatosis

may have glaucoma

Type 2: facial angioma alone (no CNS inv)

may have glaucoma

Type 3: isolated leptomeningeal angiomas;

usually no glaucoma

Clinical Manifestations of SWSRisk of SWS with facial PWS 8%

SWS without facial naevus 13%

Bilateral cerebral involvement 15%

Seizures 72-93%

Hemiparesis 25-56%

Hemianopia 44%

Headaches 44-62%

Developmental delay & mental retardation 50-75%

Glaucoma 30-71%

Hypomelanosis of Ito

� Neurological – 76% (1st

decade)

� I.D. in 50-60% (IQ<70)

� Seizures in majority

� Autism

� Hemimegalencephaly

� Brain Tumours

� Other (visual disturbance, cardiac, renal, genito-urinary)

Neurofibromatosis – Type1

Management Dilemmas

� Plexiform Neurofibromas (PNs)

- whether, who and when to image?

- do we dig and reveal what is underneath?

- treatment options - QOL (surgery, pain Mx)

� Size and location of PN tumors most

influence presentation of clinical symptoms.

� Complete tumor resection is possible in

patients with small and accessible PNs.

� @ RXH we image all plexiforms

Targets

Patients with PNs of the head and neck are more likely

to benefit from surgery if the indications were to:

(1) exclude malignancy in a rapidly enlarging mass;

(2) provide relief from neurogenic pain or motor

weakness;

(3) improve symptoms caused by airway

compression;

(4) enhance cosmesis in those with disfiguring

diseaseArch Otolaryngol Head Neck Surg. 2005;131:712-718

� Optic Gliomas

- to image or not ?

- does imaging affect management ?

- when to image?

- our practice.

� Transition

- when?

- whereto?

Future - interventions

Iceberg Theme

� Spectrum - Neurocutaneous Syndromes

� Genetically

- Contiguous gene syndromes –

TSC/APCKD

- NF1 associations

- Family members

� Plexiform neurofibromas

� Learning Disabilities

Bookings

� Neurology secretary – ext.5434

� Discuss with consultant or SR

� Refer plexiforms early

� Preferably do not CT scan

Thanks !!!

� Neurology team

� Developmental team

� Neurosurgical team

� Eye clinic staff

� Orthopaedics

� Genetics (esp. counsellors)

� Plastic surgery team

� Dermatology

� Paediatric surgery