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Neurocutaneous syndromes

1. Neurofibromatosis . [ Von Recklinghausen disease] Autosomal dominant disorder

A. NF=-1 is diagnosed if any two of the following signs are present

  1. Six or more café- au lait macules over 5 mm is greatest diameter in prepubertal individual and over 15 mm in greatest diameter in post pubertal individuals
    1. Café au lait spots are the hallmark of neurofibramatosis and are present in almost 100% of patientsQ
    2. These having predilection for the trunk and extremities and sparing of the face. Q
  2. Axillary or inguinal freckling.
  3. Two or more iris Lisch nodules (prevalence ↑ se with age ) Q
  4. Two are more neurofibromas or one plexiform neurofibroma
  5. Distinctive osseous lesions such as sphenoid dysplasia (which may cause pulsating exophthalmos) or cortical thinning of long bone with or without pseudoarthrosis. Scoliosis is the most common orthopedic manifestation.
  6. Optic glioma
  7. A first degree with NF-1 other features
    1. Macrocephaly
    2. Learning disabilities, attention deficit disorders
    3. Precocious Puberty
    4. Incidence of pheochromocytoma, rhabdomyosarcorma leukemia and Wilm’s tumor is higher then in the general population

B. NF-2 – Diagnosis when one of the following is present

  1. Bilateral eighth nerves masses [ acoustic neuromas] Q
  2. 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. 

2. Sturge Weber Disease

  1. Facial nevus (port wine stein) Q
  2. Buphthalmos and glaucoma of the ipsilateral eye
  3. Seizures and hemiparesis contralateral to facial nevus
  4. Mental retardation
  5. Intracranial calcification (railroad- track appearance) Q

3. Tuberous Sclerosis (Bourneville’s disease)

  1. Autosomal dominant
  2. Characteristic brain lesion consists of tubers present in the subependymal region they undergo calcification and project into the ventricular cavity producing Candle Dripping appearance Q

Infancy infantile spasms and hypsarrhythmia on EEG; Ash leaf hypopigmented lesion.

4-6 yr    Sebaceous adenoma – red nodule over nose

             Shagreen patech lumbosacral region.

            → Subungual or periungual fibroma

            → Retinal lesion

Rhabadomyomas, polycystic kidney disease.


4. Von-Hippel Lindau Disease

There are retinal and cerebellar hemangioblastomasQ besides the spinal cord angiomas and cystic tumor of pancreas, kidney and epididymis.

Renal carcinoma is the most common cause of death Q

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