Harlequin-Type Ichthyosis is a medical condition where the skin of an infant becomes thick and scaly.

The change occurs in the keratin layer of the skin.

Large and thick, diamond shaped scales, red in color, can be seen.

The scaly nature of the skin causes the infant to have difficulty with movement and respiration.

It is a very rare condition.

 

Symptoms:

–  Severe cranial and facial deformities
–  Ears and nose may be absent or poorly developed
–  Ectropion  [Everted or outward eyelids]
–  Dryness of skin
–  Thickening of skin
–  Large scales
–  Scales can be reddish in color
–  Arms, feet, fingers can also be deformed
–  Polydactyly – more than the usual number of toes or fingers

 

Causes:

  • Mutation in the gene for protein –  ABCA12
  • This gene helps regulate healthy skin.
  • This mutation can be inherited

 

Areas of skin affected:

1.)  Face
2.)  Eyes
3.)  Ears
4.)  Penis
5.)  Extremities
6.)  Other

 

Risk Factors

–  Increase chance for infection due to cracks in skin
–  Cracked Skin
–  Dehydration
–  Restricted or difficulty breathing
–  Difficulty controlling water loss

 

Treatment

. Isotretinoin  [Isotrex]

  • Symptomatic treatment
  • Treat Dryness
  • Treat Infections
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