ichthyosis
Published on Nov 18, 2015
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PRESENTATION OUTLINE
Ichthyosis is a family of 28 genetic skin disorders that are characterized by dry, flaking, scaly skin. It's name comes from the Greek work "ichthys," meaning fish.
Photo by Dirty Bunny
CAUSES
Ichthyosis may be either acquired or heterogeneous. While parents may not show evidence of having the disease, it is possible for them to be carriers. Mutations during the formation of the zygote can also cause the inherited form. Over 40 gene mutations are known for causing the diseases. When the child inherits two defective genes the form will be much more severe than one who has only inherited one gene. If the disease is acquired, it is usually accompanied by another internal disease, such as cancer or HIV/AIDS, and is quite rare.
characteristics
- Each variation of the disease varies in its features
- Palms are excessively lined
- Skin becomes gradually dry and scaly
- Thin, reddened, constantly shedding skin
- Thick, brown, scaled skin patches
Photo by Kristaps Bergfelds
ichthyosis
#1
ichthyosis
#3
harlequin ichthyosis
#4
common vs. severe cases
affected persons rate
signs & symptoms
- If hereditary, signs are usually obvious at birth
- Symptoms may also develop within the first 5 years of life
- Blistering, itching, and restricted movement are experienced
- Inability to sweat; lack of temperature control & overheating
- Impaired hearing or eyesight due to skin buildup
Photo by tim caynes
testing procedures
Photo by Alpha Rios
Despite the fact that people affected by this disease display the distinct characteristics, doctors will also use blood tests and extract skin biopsies to identify the specific form of ichthyosis.
Photo by r.nial.bradshaw
treatment
Photo by Mark Sadowski
treatments include:
- Frequent application of lotions, creams, and ointments
- Lengthy salt water baths
- Prescribed vitamin A retinoids for severe cases
- Creams and products containing urea for exfoliation
- Gently rubbing skin with a pumice stone to remove scales
Prognosis
- There is no cure for ichthyosis
- Goal is to manage symptoms (moisturizing and exfoliating)
- Less severe forms should allow for a normal life
- Severe cases are life-threatening; infection & dehydration are fatal
- The most severe case: Harlequin ichthyosis; lifespan of a few days
Photo by kevin dooley
other facts.
- Ichthyosis vulgaris, the least severe form; 95% of affected people have it
- Other animals, such as dogs, may also inherit this disease
- Any part of the body can be affected by ichthyosis
- The oldest survivor of the most severe form, Harlequin ichthyosis, is 30
- Men and women of any race can have ichthyosis
