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NEUROCUTANEOUS SYNDROMES

NEUROCUTANEOUS SYNDROMES. This is a heterogeneous group of disorders characterized by abnormalities of both the skin and central nervous system (CNS). They arise from defective differentiation of the primitive ectodermal tissues. Most neurocutaneous disorders are familial. NEUROFIBROMATOSIS.

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NEUROCUTANEOUS SYNDROMES

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  1. NEUROCUTANEOUS SYNDROMES TA OGUNLESI (FWACP)

  2. This is a heterogeneous group of disorders characterized by abnormalities of both the skin and central nervous system (CNS). • They arise from defective differentiation of the primitive ectodermal tissues. • Most neurocutaneous disorders are familial. TA OGUNLESI (FWACP)

  3. NEUROFIBROMATOSIS • Also known as von Recklinghausen disease • Inherited in the autosomal dominant fashion. • NF is the consequence of an abnormality of neural crest differentiation and migration during the early stages of embryogenesis. • The condition affects virtually every system and organ and it is progressive. • Distinctive features may be present at birth but the development of complications is delayed for decades. TA OGUNLESI (FWACP)

  4. NF • There are two distinct forms of NF. • NF-1 forms 90% of cases. Its incidence is 1/4,000 and is diagnosed if any TWO of the following signs are present: • Six or more café -au-lait > 5mm in prepubertal individuals and > 15mm in postpubertal individuals. • Axillary or inguinal freckling (multiple hyperpigmented areas 2–3mm). TA OGUNLESI (FWACP)

  5. NF • Two or more iris Lisch nodules. • Two or more neurofibromas or one plexiform neurofibroma • A distinctive osseous lesion such as sphenoid dysplasia • Optic gliomas • A first degree relative with NF-1 TA OGUNLESI (FWACP)

  6. NF • NF-2 accounts for 10% of all cases of NF, with an incidence of 1/50,000. • It may be diagnosed when one of the following is present: • Bilateral eighth nerve masses consistent with acoustic neuromas as demonstrated by CT scanning or MRI. • A parent, sibling or child with NF-2 and either unilateral eighth nerve masses or any two of the following: neurofibroma, meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacities. TA OGUNLESI (FWACP)

  7. NF • Bilateral acoustic neuromas are the most distinctive feature of NF-2. Symptoms of hearing loss, facial weakness, headache, or unsteadiness may appear during childhood. • Signs of a cerebellopontine angle mass are more commonly present in the 2nd and 3rd decades of life. • Café-au-lait spots and skin neurofibromas are much less common in NF-2. • Posterior subcapsular lens opacities are identified in approximately 50% of patients with NF-2. • CNS tumors are common in patients with NF-2. TA OGUNLESI (FWACP)

  8. CLINICAL MANIFESTATIONS OF NF • Café-au-lait spots are present in almost 100% of patients. • They are present at birth but increase in size, number, and pigmentation, especially during the first few years of life. • The spots are scattered over the body surface with predilection for the trunk and extremities and sparing of the face. • Lisch nodules are hamartomas located within the iris and are best identified with a slit-lamp examination. TA OGUNLESI (FWACP)

  9. CLINICAL MANIFESTATIONS OF NF • NEUROFIBROMAS are small rubbery skin lesions situated along peripheral nerves. • PLEXIFORM NEUROFIBROMATOSIS result from diffuse thickening of nerve trunks & may produce overgrowth of an extremity and a deformity of the corresponding bone. • SCOLIOSIS is the most common orthopedic manifestation of NF-1 TA OGUNLESI (FWACP)

  10. OTHER CLINICAL MANIFESTATIONS OF NF • Visual loss • Precocious puberty • Seizure disorder • Hydrocephalus (from aqueductal stenosis) • Macrocephaly without ventricular dilatation TA OGUNLESI (FWACP)

  11. OTHER CLINICAL MANIFESTATIONS OF NF • Cerebral vessel abnormalities resulting in stroke • Hemiplegia • Attention deficit and hyperactivity disorder • Learning disability. • Malignant transformation of neuromas • Hypertension from renovascular stenosis TA OGUNLESI (FWACP)

  12. TUBEROSE SCLEROSIS • Inherited as an autosomal dominant trait with an estimated frequency of 1/6000. • Half of the cases are sporadic owing to new mutations. • It is an extremely heterogeneous disease with a wide clinical spectrum varying from severe mental retardation and incapacitating seizures to normal intelligence and a lack of seizures, often within the same family. TA OGUNLESI (FWACP)

  13. TS • As a rule, the younger the patient presents with symptoms and signs of TS, the greater is the likelihood of mental retardation. • The disease affects many organ systems other than the skin and brain, including the heart, kidney, eyes, lungs, and bone. TA OGUNLESI (FWACP)

  14. TS • The characteristic brain lesions consist of tubers. Tubers are located in the convolutions of the cerebral hemispheres and are typically present in the subependymal region, where they undergo calcification and project into the ventricular cavity, producing a Candle-dripping appearance. • Tubers in the region of the foramen of Monro may cause obstruction of cerebrospinal fluid (CSF) flow and hydrocephalus TA OGUNLESI (FWACP)

  15. TS • TS may present during infancy with infantile spasms which are usually very difficult to control. • There is a high incidence of mental retardation in young patients with TS and infantile spasms. • Hypopigmented skin lesions known as ASH LEAF in more than 90% of cases in this age group. TA OGUNLESI (FWACP)

  16. TS • The CT scan typically shows calcified tubers in the periventriuclar area • Sebaceous adenoma over nose & cheeks. • Shagreen patch in the lumbosacral region. • Rhabdomyomas of the heart. • Brain tumours (less common than in NF). TA OGUNLESI (FWACP)

  17. OTHER NEUROCUTANEOUS SYNDROMES • Sturge-Weber disease • von Hippel–Lindau disease • Ataxia telangiectasia TA OGUNLESI (FWACP)

  18. MANAGEMENT OF NEUROCUTANEOUS SYNDROMES • Usually multifaceted. • Seizure control with newer anti-convulsants. • Surgery- hemispherectomy or lobectomy may prevent the development of mental retardation, in patients with recalcitrant seizures, particularly if the surgery is accomplished during the 1st year of life. TA OGUNLESI (FWACP)

  19. MANAGEMENT OF NEUROCUTANEOUS SYNDROMES • Because of the risk of glaucoma, regular measurements of intraocular pressure with a tenonometer is indicated. • Special education and vocational training. • Laser therapy for facial nevus and plexiform neuromas. • Social supports. TA OGUNLESI (FWACP)

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