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It is an inherited disorder (due to deficiency of the enzyme tyrosinase) Q with diminished or absent melanin in the skin, hair and eyes.

In albinism melanocyte and melonosomes are normally present but the systhesis of melanin in melanosomes is defective. Q


Clinical Features

  1. Hypopigmentation of the skin and hair
  2. Patient with involvement of the eye may have strabismus, photophobia, decreased visual aquity.
  3. Irides are translucent and pink in infancy and change to light blue or brown with age.
  4. Binocular vision is absent
  5. Blindness and skin cancer are major late sequelae of albinism. 

Waardenburg Syndrome

  1. Lateral displacement of inner cathi              
  2. Broad nasal bridge
  3. Hetrochromia of iridis                            
  4. Sensorineural deafnessQ       
  5. White forlock of hair 

Chediak Higashi Syndrome


AR disorder characterized by

  1. Increased susceptibility of infection due to defective degranulation of neutrophilsQ
  2. Mild bleeding diathesis
  3. Partial occulocutaneous albinism
  4. Progressive peripheral neuropathy
  5. Tendency to develop a life threatening lymphoma like syndrome

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