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Neurocutaneous syndromes

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Neurocutaneous syndromes

  1. 1. NEUROCUTANEOUS SYNDROMES
  2. 2. INTRODUCTION • Neurocutaneous syndromes are a heterogenous group of disorders • These involve the integument and the CNS • These are mostly familial • Arise due to a defect in differentiation of the primitive ectoderm
  3. 3. 1. NEUROFIBROMATOSIS 2. TUBEROUS SCLEROSIS 3. STURGE WEBER SYNDROME 4. INCONTINENTIA PIGMENTI 5. ATAXIA TELANGIECTASIA 6. LINEAR NAEVUS SYNDROME 7. HYPOMELANOSIS OF ITO 8. VON HIPPEL LINDAU SYNDROME
  4. 4. NEUROFIBROMATOSIS (VON RECKLINGHAUSEN’S DISEASE) • It is an autosomal dominant disease • It is protean, progressive • It is a consequence of an abnormality of neural crest differentitiation and migration during early stages of embryogenesis • It is of distinctintly 2 types:NF1 and NF2
  5. 5. NF1 • Incidence of 1 per 14000 • Majority of mutations occur from paternal germline • chromosome17q11 • Diagnosed when any 2 of the following 7 signs are positive 1. 6 or more café au lait spots 2. Axillary or inguinal freckling
  6. 6. 3. 2 or more lisch nodules 4. 2 or more neurofibromatosis or 1 plexiform neurofibromatosis 5. Osseous lesion : sphenoid dysplasia or cortical thinning of long bones or scoliosis 6. Optic gliomas 7. First degree relative diagnosed by above criteria
  7. 7. Clinical features • Learning disabilities • Attention deficits • Psychosocial behavior disorder • Speech disorder • Seizures • Macrocephaly
  8. 8. • Cerebral vessls – aneurysm or stenosis • Hypertension • Precocious puberty • Neurofibroma differentiating into neurofibrosarcoma or malignant schwannoma • Increased incidence of tumours like  Phaechromocytoma  Wilms tumour  Leukaemia  rhabdomyosarcoma
  9. 9. • Increased CNS tumours like  Meningiomas  Optic gliomas  Neurofibroma  astrocytomas
  10. 10. • MRI: Abnormal hyperintense T2 weighted signals in optic tracts, brain stem, globus pallidus, thalamus, internal capsule, cerebellum Called as UBOs Represent areas of dysmyelination or increased water content
  11. 11. NF2 • INCIDENCE OF 1 IN 50000 • Gene for NF2 located near long arm of 22q1 • Diagnosed when 1 of the following 2 criteria is positive
  12. 12. 1. Bilateral accoustic neuromas 2. First degree relative with • Unilteral eighth nerve mass • Any 2 of  Neurofibroma  Meningioma  Glioma  Schwannoma  Posterior subcapsular lenticular opacities
  13. 13. TREATMENT • No specific treatment available • Ophthalmologic follow up essential • Genetic counselling • Examination of fetal DNA
  14. 14. TUBEROUS SCLEROSIS • Autosomal dominant • Prevalance of 1 in 6000 • 2 foci for the TS complex: TSC1– on 9q - encoding a protein called hamartin TCS2 – on 16p – encoding a protein called tuberin
  15. 15. DIAGNOSIS • 2 major criteria or 1 major and 2 minor criteria • Major: Skin lesions Brain and eye lesions Tumours of heart , kidneys or lungs
  16. 16. • Minor: Bone cysts Rectal polyps Dental enamel pits Gingival fibromas Nonrenal hamartomas Confetti skin lesions Multiple renal cysts
  17. 17. CLINICAL MANIFESTATIONS • Skin lesions 1. Ash leaf macules 2. Shagreen patch 3. Sebacious angiomas (angiofibromas) 4. Subungual fibromas
  18. 18. • Retinal lesions 1. Mulberry tumours 2. Hamartomas
  19. 19. Cortical tuber • Located in the convolutions of the cerebral hemispheres and in the subependymal region where it projects into the ventricular cavity • May calcify and have a candle dripping appearance • CT and MRI identify them
  20. 20. • Other CNS manifestations include seizures, cognitive impairment and behavioral abnormalities
  21. 21. • Heart: Rhabdomyosarcomas – in 40% of TS Cause CCF, or arrhythmias • Lungs: lymphangiomyomatosis
  22. 22. • Kidneys: Angiomyolipomas Renal cysts
  23. 23. DIAGNOSIS • High index of suspicion clinically • CT head or MRI may help • Genetic testing for TSC1 and TSC2
  24. 24. TREATMENT • There is no specific treatment
  25. 25. STURGE WEBER SYNDROME • Sporadic disorder • Frequency of about 1 in 50000 live births • Etiology Anomalous development of primordial vascular bed in early stages of cerebral vascularization Overlying meninges are richly vascularized Cortex atrophied and calcified
  26. 26. CLINICAL FEATURES • Facial naevus: Involves upper face and eyelid always Complications may include buphthalmos and glaucoma • Seizures: Focal tonic clonic Contralateral to site of naevus
  27. 27. • Hemiparesis • Mental retardation
  28. 28. DIAGNOSIS • Skull Xray: Rail-road apearance • CT: Unilateral cortical atrophy and ipsilateral dilatation of lateral ventricle • MRI
  29. 29. TREATMENT • seizure management • Management of buphthalmos and glaucoma
  30. 30. VON HIPPEL LINDAU SYNDROME • Autosomal dominant • Its focus is on chromosome 3p25 with a defect occuring in VHL tumour suppressor gene • Incidence is 1 in 36000
  31. 31. CLINICAL FEATURES • Cerebellar hemangioblastomas It occurs mainly in early adult life It has increased intracranial pressure signs • Spinal cord hemangioblastomas Disturbances in propioception , gait , bladder function
  32. 32. • Retinal angiomas Occur in about 25% of cerebellar haemangioblastoma cases Small masses of thin walled capillaries Located in peripheal retina Vision unaffected till late Complications include retinal detachment
  33. 33. • Cystic lesions of kidney , pancreas , liver • phaeochromocytomas
  34. 34. TREATMENT • Regular follow up
  35. 35. INCONTINENTIA PIGMENTI (BLOCH SCHULBERGER SYNDROME) • Rare , heritable, multisystem ectodermal disorder • Phenotype is produced by functional mosaicism caused by random X inactivation of an X linked dominant gene that is lethal in males • IKK-gama/NEMO gene • Have mainly skin , dental , ocular manifestations
  36. 36. DIAGNOSIS • Major criteria: 1. Typical neonatal vesicular rash with eosinophilia 2. Blaschkoid hyperpigmentation of trunk 3. Linear atrophic hairless lesions
  37. 37. • Minor criteria 1. Dental features 2. Alopecia , wooly hair 3. Abnormal nails 4. Multiple male miscarriages
  38. 38. SKIN MANIFESTATIONS Has 4 phases 1. Phase 1 (vesicular) Presents at birth or after a few weeks of life Linear erythematous streaks and plaques of vesicles Has blood eosinophilia of upto 65% Resolves by 4 months of age
  39. 39. 2. Phase 2 (verrucous) Blisters resolve and form hyperkeratotic verrucous plaques Affect extremities Involute by 6 months
  40. 40. • Phase 3 (pigmentary) Characteristic of IP Generally do not correlate with stage 1 and 2 areas Seen within first few weeks of life Mainly affect axilla , groin Macular whorls, reticular patches , flecks – these follow Blascko lines
  41. 41. Persist throughout childhood Generally disappear by 16 years of life Histological appearance – vacuolar degeneration of epidermal basal cells and melanin in macrophages of upper dermis
  42. 42. • Phase 4 Hypopigmented , anhydrotic , hairless patches Mainly on flexor aspect of lower limbs
  43. 43. OTHER CLINICAL MANIFESTATIONS • Alopecia(40%) • Dental(80%) – hypodontia , conical teeth , impaction • CNS -- cognitive defects ,mental retardation , paralysis , spasticity , seizures , microcephaly • Ocular(30%) -- neovascularization and retinal detachment , microphthalmos , strabismus , optic nerve atrophy , cataracts
  44. 44. • Dystrophy of nails: ridging , pitting • Skeletal malformations
  45. 45. TREATMENT • Depend on appearance of non cutaneous manifestations as the cutaneous manifestations are benign • Genetic counselling
  46. 46. HYPOMELANOSIS OF ITO (INCONTINENTIA PIGMENTI ACHROMIANS) • There is no evidence of genetic transmission • It affects both sexes equally • It should be differentiated from fourth stage of IP
  47. 47. CLINICAL FEATURES • Occurs within 2 years of age • Hypopigmented macules all over body • It remains througout childhood and fades in adults
  48. 48. OTHERS • Mental retardation(70%) • Seizures(40%) • Microcephaly(25%) • Hypotonia(15%) • Scoliosis • Strabismus , nystagmus
  49. 49. LINEAR NAEVUS • Facial naevus: Midline Occurs on forehead and nose Faint in infancy Later hyperkeratotic Yellow brown in colour
  50. 50. • Nervous system disorders: Seizures Mental retardation Hemiparesis Homonymous hemianopia
  51. 51. • CT shows hemimeganencephay with hamartomatous changes
  52. 52. PHACE • Posterior fossa malformations • Hemangiomas • Coarctation of aorta and cardiac defects • Arterial malformations • Eye
  53. 53. • Facial hemangioma ipsilateral to aortic arch • Occurs more commonly in females
  54. 54. ATAXIA TELANGIECTASIA • Autosomal recessive inheritance • It occurs due to a mutation of ATM gene on chromosome 11q 22-23
  55. 55. CLINICAL FEATURES • Cerebellar ataxia • Ocuucutaneous telengiectasias • Chronic sinopulmonary disease • Decreased elasticity of the skin • Oculomotor apraxia of horizontal gaze, nystagmus , strabismus • Increased incidence of lymphoreticular tumours like lyphomas, leukaemias , hodgkin’s disease
  56. 56. THANK YOU!!!

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