April 8, 2018

Albinism

Albinism

Albinism is a condition in which people have little or no pigment in their eyes, hair, or skin.  There are two kinds of albinism:  those that effect only the eyes and which effects the eyes, skin and hair. Most that are born with albinism have parents that have normal hair and eye colour for the ethnicity. The amount of pigment in those that have albinism varies. Most of the people with albinism have blue eyes, but some have red violet eyes. However, do note that those with albinism suffer from eye issues, as well as problems with the skin.

Types of Albinism

There are four different forms of albinism.  Those include:

  • Oculocutaneous albinism type 1(OCA1):  Type 1 is a result of a genetic defect in which an enzyme called tyrosinase helps the body change amino acid tyrosine into a pigment. With OCA1, there are two types:  OCA1A and OCA1B.  With OCA1A, this enzyme is inactive and no melatonin is produced. White hair and very light skin are then formed. With OCA1B, the enzyme is active slightly, with a small amount of melatonin produced. The hair will then darken to blonde, yellow/orange, or light brown.  There will also be more pigmentation to the skin.
  • Oculocutaneous albinism type 2 (OCA2):  Type 2 results from a genetic defect. This defect is found in the P protein and will help the tyrosinase enzyme function.  Melatonin is produced at a minimum, so individuals can have light blonde to brown hair.
  • Oculocutaneous albinism type 3 (OCA3):  Type 3 is from a genetic defect from TYRP1, a protein that is related to tyrosinase. With type 3, there can be substantial amount of pigment to the skin.
  • Oculocutaneous albinism type 4: (OCA4):  Type 4 is also from a genetic defect, but is from the SLC45A2 protein.  This protein helps tyrosinase to help function.  There are small amounts of melatonin pigment produced.

If a person has albinism, they will always have eye problems.  These issues will not be correctable with glasses. How impacted the vision is depends on the different type of albinism a person has.

Many with albinism will have astigmatism.  They can be far or near sighted, and may have a sensitivity to a bright light or glares. They may have a lazy eye, or eyes that cross.

Another issue many face with albinism are skin issues. Many are very fair in complexion, so sun damage is a real concern. Those with albinism should always wear sunscreen, a wide brimmed hat and sunglasses to protect themselves.  They will also want to limit sun exposure and stay inside when the UV rays are at their peaks.

Albinism Treatment

Treatment consists of visual rehabilitation. Surgery may also be done on the eyes.  Contact lenses might be prescribed to block out light transmission through the iris.   There is no cure for albinism.

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Ichthyosis (ick-thee-OH-sis) is a skin disease that causes extremely dry, thick, and scaly skin resembles fish scales.

These are a heterogeneous group of disorders with both inherited and acquired forms. these are the types
Ichthyosis Vulgaris- Most common type of icthyosis Lamellar Ichthyosis- Lamellar ichthyosis is characterized by dark, plate (armor)-like scale. Epidermolytic Hyperkeratosis- characterized by generalized redness and fine white scale Congenital Ichthyosiform Erythroderma- newborn infant with ichthyosis who presented at birth with collodion baby appearance. X-linked Ichthyosis- due to a defect in the enzyme steroid sulfatase, affects males with generalized scaling that usually begins soon after birth.

Ichthyosis Treatment

Several hours each day may need to be devoted the skin if ichthyosis is present in an individual. Daily, a person will need to take a shower or a bath. The skin should be exfoliated on a daily basis, and moisturised well. Moisturising ointments or creams may need to be prescribed by a dermatologist for the individual. Oral retinoids can be prescribed to reduce scaling. If a secondary infection occurs on the skin, oral antibiotics will need to be prescribed. Tips that will help keep the skin looking and feeling its best include applying a good quality lotion within 3 minutes of bathing. Apply to wet skin to keep moisture trapped into the skin. Products that contain lactic acid, alpha hydroxy acids and urea will help to keep skin not only moisturised but also exfoliated. Rubbing a wet pumice stone over crusty scales on the skin can help to remove them. Should there be scales on the scalp, brushing wet hair gently will aid in removing the scales.  

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