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Educational draft · awaiting clinical reviewUse Rapid for revision, not patient-care decisions. Check current national and local guidance and the BNF or BNFC before acting.

Neurocutaneous syndromes

Paediatrics and child health · UK scope · Sources checked 27 Aug 2026 · Clinical review pending

RapidFull
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Acute neurocutaneous complication

Status epilepticus, sudden focal deficit, acute visual loss, hydrocephalus symptoms, intracranial haemorrhage, severe hypertension or a painful rapidly enlarging tumour requires urgent specialist assessment.

Action: Use ABCDE, follow seizure and stroke pathways, measure blood pressure and vision where feasible and involve paediatric neurology with ophthalmology, neurosurgery, oncology or genetics according to the syndrome and complication.

Synopsis

Recognise neurofibromatosis type 1, tuberous sclerosis complex and Sturge-Weber syndrome from skin and neurological findings, identify urgent complications and organise organ-specific lifelong surveillance.

  • Neurocutaneous syndromes are multisystem genetic or mosaic disorders in which skin findings provide a visible clue to brain, eye, renal, cardiac or tumour risk.
  • NF1 diagnostic features include multiple age-sized café-au-lait macules, axillary or inguinal freckling, neurofibromas, optic-pathway glioma, characteristic ocular or bony lesions, a pathogenic NF1 variant or an affected parent.
  • Do not perform routine screening brain MRI in an asymptomatic child with NF1 solely to find optic glioma; use regular visual and clinical surveillance and image concerning findings.
  • Tuberous sclerosis features include at least three hypomelanotic macules, facial angiofibromas, shagreen patch, cortical tubers, subependymal nodules, renal angiomyolipoma and cardiac rhabdomyoma.
  • Infantile spasms in tuberous sclerosis are an emergency; NICE offers vigabatrin first-line and urgent EEG response monitoring.
  • A port-wine birthmark involving the forehead or upper eyelid should prompt early ophthalmology for glaucoma and paediatric neurological assessment for Sturge-Weber risk.
  • Surveillance is organ-specific and lifelong: development and seizure, vision, blood pressure, renal imaging and function, cardiac assessment, skin and tumour symptoms.
  • Rapid plexiform neurofibroma growth, persistent night pain, hardening or new deficit raises malignant transformation and needs urgent specialist imaging.
  • Tuberous sclerosis-associated neuropsychiatric disorders include autism, attention, sleep, mood and learning problems and should be screened systematically rather than only after school failure.
  • Genetic counselling explains variable expression, mosaicism, recurrence and testing options without predicting an individual child's severity from the parent alone.

Key red flags

Infantile spasm clusters or developmental slowing in tuberous sclerosis require same-day EEG and treatment; delays worsen developmental outcome.

Headache, vomiting, papilloedema, behavioural change or new focal signs can indicate a subependymal giant-cell astrocytoma causing obstructive hydrocephalus.

Visual change, proptosis, new squint or early puberty in neurofibromatosis type 1 raises optic-pathway glioma or hypothalamic involvement.

Persistent severe pain, hard texture, rapid growth or new neurological deficit in a plexiform neurofibroma raises malignant peripheral nerve-sheath transformation.

A forehead or upper-eyelid port-wine birthmark increases Sturge-Weber brain and glaucoma risk and merits early ophthalmological and paediatric assessment.

New hemiparesis, prolonged seizure or stroke-like episode in Sturge-Weber syndrome requires emergency imaging and seizure management.

Investigation priorities

01
First-line clinical diagnostic criteriaFirst stepFirst line

Combine age-specific skin, ocular, neurological, skeletal, tumour and family findings before broad imaging.

Management branches

RecogniseConfirm a multisystem pattern

Characteristic pigment, tumour or vascular skin findings are identified.

  1. Document lesion number, size, distribution and age-dependent diagnostic criteria accurately.
  2. Examine vision, blood pressure, growth, development, neurology, spine and palpable lesions.
  3. Refer to clinical genetics and the syndrome-specific multidisciplinary service for confirmation.

Key medicines

Vigabatrin for TSC spasmsFor infantile spasms associated with tuberous sclerosis, specialist treatment commonly starts at 50 mg/kg/day orally in two divided doses and increases over several days toward 100–150 mg/kg/day according to response and EEG.Arrange urgent ophthalmic and developmental context, monitor sedation, hypotonia, MRI signal changes and seizure response, and recognise that visual-field toxicity limits unnecessary prolonged exposure.
EverolimusDose for TSC-associated SEGA, renal angiomyolipoma or refractory seizures is indication- and body-surface-area-specific and is titrated to trough concentration through the specialist mTOR protocol rather than a fixed general paediatric dose.Monitor mouth ulcers, infection, blood count, lipids, glucose, liver and renal function, proteinuria, lung toxicity, vaccination and CYP3A interactions; interrupt around serious infection or surgery as directed.
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Sources and review status4 sources · checked 27 Aug 2026 · clinical review pending+
Sources

Sources and review status

National guidance is shown before implementation-dependent detail. Typical adult dose examples remain subject to patient factors, contraindications and the live BNF or specialist protocol. Source check completed 27 Aug 2026; clinical approval remains outstanding.

  • NHS Neurofibromatosis Type OneDiagnostic features, complications and clinical surveillance.
  • Tuberous Sclerosis AssociationMultisystem manifestations, diagnosis and organ monitoring.
  • NICE NG217 Epilepsies GuidelineInfantile-spasm treatment and epilepsy principles in tuberous sclerosis.
  • GOSH Sturge Weber ServicePort-wine distribution, neurological disease, glaucoma and multidisciplinary care.

Editorial contact: Doctor’s Passport editorial team. Source-check date is separate from clinical approval. Report a content problem · Content changes

Authoring stateRapid draftClinical stateAwaiting reviewJurisdictionUnited Kingdom