LINEAR NEVUS SYNDROME
 
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LINEAR NEVUS SYNDROME

 

DEFINITION:

A neurocutaneous syndrome characterized by cutaneous, neurologic (seizures), and ocular manifestations.

EPIDEMIOLOGY:

  • incidence: rare
  • age of onset:
    • infancy (nevus)
  • risk factors:
    • familial - ? autosomal dominant
      • chrom.#: ?
      • gene: ?

PATHOLOGY:

1. Lesions:

1. Facial Nevus - 3 stages:

1st Stage

  • in infancy
  • alopecia with absent or primative hair follicles and numerous small hypoplastic sebaceous glands

2nd stage

  • around onset of puberty
  • lesions become verrucous or nodular with hyperplastic sebaceous glands

3rd stage

  • later in life
  • development of benign or malignant tumors
  • 15-20% risk of tumor, i.e., basal cell epithelioma

CLINICAL FEATURES:

1. Cutaneous Manifestations

1. Facial Nevus

  • located on forehead down into the nasal area
  • tends to be midline or near midline and linear
  • may not be visible at birth but becomes apparent during infancy
  • slightly raised, yellow-brown, hairless, waxy plaque
  • hemihypertrophy of the face and limbs ipsilateral to the nevus may arise at birth or infancy
  • may be periods of rapid growth of lesion
  • nevus may also be present on trunk and limbs

2. Neurologic Manifestations (60%)

1. Seizures

  • generalized myoclonic or focal motor
  • onset from 2 months -> 2 years
  • difficult to control

2. Others

  • mental retardation (moderate to severe) with developmental delay
  • hemiparesis (corticospinal tract dysfunction) and occurs contralateral to the nevus

3. Ocular Manifestations (50%)

  • esotropia, colobomatas of the eyelid, iris, and or choroid, cloudy cornea, lipodermoid of conjunctiva
  • homonymous hemianopia

4. Others

1. Cardiovascular

  • coarctation of the aorta, VSD

2. Renal

  • renal hamartomata, nephroblastoma, Wilms tumor

3. Musculoskeletal (28%)

  • bony hypertrophy, cysts, kyphosis, scoliosis, ankle and foot deformities

INVESTIGATIONS:

1. Imaging Studies

1. CT/MRI

  • normal or hemimegalencephaly with harartomatous changes
  • porencephalic cysts

2. EEG

1. Focal Anomalies

  • unilateral slowing and epileptiform discharges ipsilateral to the nevus

2. Hypsarrhythmia

  • detected when infantile spasms are the presenting feature (hemihypsarrhythmia has been described)

MANAGEMENT:

1. Supportive

  • no treatment for underlying disorder
  • multidisciplinary approach
    • Paediatrics, Neurology, Cardiology, Nephrology, Orthopedics,
    • Ophthalmology, Dermatology
    • treat seizure disorder

 

 

 

Pediatric Database - LINEAR NEVUS SYNDROME

 

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