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.
2 min synopsisUK scopeSources checked 27 Aug 2026Clinical review pending
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Acute neurological, ocular or skin-barrier failure
A first or prolonged seizure, focal deficit, raised intracranial pressure, sudden visual change, acute glaucoma symptoms, rapidly enlarging painful plexiform mass, airway or spinal compression, widespread blistering with dehydration or sepsis, or heat illness in anhidrotic ectodermal dysplasia is an emergency.
Action: Stabilise using age-specific care and obtain urgent paediatric neurology, ophthalmology, neurosurgery, oncology or skin-failure expertise; protect wounds, temperature and fluids and do not postpone treatment while awaiting genetic confirmation.
Synopsis
Use skin, hair, nail and dental patterns to recognise inherited and mosaic disorders, detect urgent neurological and ocular disease, choose phenotype-led genomic testing and coordinate lifelong multi-organ surveillance.
A genodermatosis may be inherited or post-zygotic mosaic; distribution along Blaschko lines or a body segment can be as informative as family history.
Neurofibromatosis type 1 evolves with age: café-au-lait macules appear early, axillary or groin freckling later, then neurofibromas, with eye, bone, blood-pressure and developmental risks.
Tuberous sclerosis clues include three or more hypomelanotic macules at least 5 mm, facial angiofibromas, shagreen patch and ungual fibromas alongside seizures and renal, cardiac or lung disease.
Key red flags
New seizures, developmental regression, persistent headache or vomiting, focal neurology, sudden visual symptoms, painful or rapidly enlarging nerve tumour, hypertension, haematuria, respiratory decline, extensive blistering or infection, inability to sweat with hyperthermia, or an evolving tumour within a mosaic lesion requires urgent syndrome-specific assessment.
NF1 high-risk feature
A painful rapidly enlarging hard plexiform-neurofibroma area, new weakness, sphincter symptom or persistent night pain raises malignant or compressive transformation risk.
Investigation priorities
01
Phenotype map and pedigreeFirst step
Define diagnostic criteria, mosaic distribution and inheritance probability before testing.
Management branches
First-line phenotype routeMap skin and linked organs
Multiple congenital, patterned or syndromic skin signs are identified.
Record lesion type, size, count, distribution and age of appearance and examine hair, nails, teeth, eyes, blood pressure, growth, development and neurology.
Construct a three-generation pedigree and identify the organ complication that would cause most immediate harm, arranging its specialist assessment first.
Key medicines
Emollient ointment for ichthyosis or fragile skinApply a bland fragrance-free ointment generously and repeatedly according to skin area and specialist plan, especially after bathing; use keratolytic additives only at age-, site- and surface-area-appropriate strength.
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 1Age-dependent skin, neurological, eye, vascular and skeletal features and diagnosis.