Wednesday, January 11, 2012

Any guesses on this Skin Disease?

Here is a picture of a very difficult skin condition that is often fatal in infants.

It is characterized by diamond shape scales. Infants are at highest risk for infections, dehydration, and breathing difficulties.

Improvements in management and treatment have extended the lives of those with this condition.

The Answer is: Harlequin-type ichthyosis

More about Harlequin-type Ichthyosis:

This is a condition is 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.


- 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


- 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


. Isotretinoin [Isotrex]

- Symptomatic treatment
- Treat Dryness
- Treat Infections