About ichthyosis x linked

What is ichthyosis x linked?

X-linked ichthyosis is a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, this enzyme breaks down (metabolizes) cholesterol sulfate, a member of the chemical family of steroids. Cholesterol sulfate plays a role in maintaining the integrity of the skin. If steroid metabolism is interrupted and cholesterol sulfate accumulates in the skin cells, the skin cells stick together more strongly than usual. The normal shedding of dead skin cells is inhibited and the skin cells build up and clump into scales.

What are the symptoms for ichthyosis x linked?

Boys with X-linked ichthyosis appear normal at birth. The skin symptoms generally appear within the first year of life. Brownish scales that adhere to the skin are among the first signs of the disorder. The back and legs are most frequently involved early. The face, scalp, palms and soles, and hollows of the elbows and knees are usually spared.

In about half of adult males, comma-shaped corneal opacities occur in the eyes (seen on exam by an ophthalmologist), but they do not interfere with vision. Symptoms can improve markedly in the summer months and warm humid climates.

A small percentage of males may experience undescended testes (crytpchordism). These men may be at increased risk for contracting malignancies of the testes.

Women who are carriers of X-linked ichthyosis and give birth to sons with the disorder may experience a delay in labor or failure of labor to initiate. The enzyme defect can cause a decrease in production of maternal estriol in late pregnancy, which may affect labor and delivery. Low serum estriol levels detected by prenatal screening suggest the presence of a fetus with X-linked ichthyosis.

What are the causes for ichthyosis x linked?

X-linked recessive disorders are conditions that are coded on the X chromosome. Females have two X chromosomes; males have one X chromosome and one Y chromosome. Therefore, in females, the normal gene on one X chromosome can mask disease traits on the other X chromosome. Since males have only one X chromosome, if they inherit the gene for a disease present on the X they will express the disease. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a 50 percent chance of transmitting the carrier condition to their daughters and a 50 percent risk of transmitting the disease to their sons.

What are the treatments for ichthyosis x linked?

X-linked ichthyosis can be diagnosed before birth by amniocentesis or chorionic villus sampling. Low maternal estriol levels can suggest the presence of X-linked ichthyosis.

X-linked ichthyosis is treated by applying skin softening creams and lotions. This can be especially effective after bathing while the skin is still moist. X-linked ichthyosis responds relatively well to topical treatment with alpha-hydroxy acids, which accelerate the shedding of the dead skin cells. Cholesterol containing emollients may also improve the scaling. Alpha-hydroxy acids may sting the skin of babies and young children and should be used cautiously or in combination with another mild emollient product.

What are the risk factors for ichthyosis x linked?

A genetic disorder due to chromosomal disbalance or mutation that result in scaly and flaky skin in male is called Ichthyosis X Linked disease.

Risk factors:
Mutation of the enzyme steroid sulfatase is responsible for the foremost cause of the disease Ichthyosis X Linked.

  • Deficiency of the enzyme steroid sulfate halts the metabolism of cholesterol sulfate.
    •It leads to cholesterol sulfate accumulation on outer skin cells.
    •The skin cells are produced at a normal rate but do not separate at the outermost layer of the skin.
    •Babies born with the defect are affected by the signs after the first year of their birth.
    •Males are usually affected.
    •Females are protected by their other X chromosomes. They are the carriers.
    •The defect is caused by the inheritance of one in 6000 males.
  • Prenatal Screening is also suggested
    •Protein valuation in body testing
    •Steroid Activity Essay
    •Genetic analysis
    •Skin Biopsy
  • Normal life expectancy
    •Reduction in Scales and improvement of skin over time.
Symptoms
Scales on Neck,Trunk and Lower Extremities,Extra lines on Palms, hands and soles of feet,Rough skin,Thick skin
Conditions
Prolonged labor for mother of infected infants,Undescended Testicles,Reduced ability to Smell,Corneal opacities,Testicular cancers
Drugs
Keratolytics,Isotretinoin,Tazarotene,Calcipotriol,Liarozole,Oral Acitretin,Oral Liarozole

Is there a cure/medications for ichthyosis x linked?

A genetic disorder due to chromosomal disbalance or mutation that result in scaly and flaky skin in male is called Ichthyosis X Linked disease.

Risk factors:
Mutation of the enzyme steroid sulfatase is responsible for the foremost cause of the disease Ichthyosis X Linked.

  • Deficiency of the enzyme steroid sulfate halts the metabolism of cholesterol sulfate.
  • It leads to cholesterol sulfate accumulation on outer skin cells.
  • The skin cells are produced at a normal rate but do not separate at the outermost layer of the skin.
  • Babies born with the defect are affected by the signs after the first year of their birth.
  • Males are usually affected.
  • Females are protected by their other X chromosomes. They are the carriers.
  • The defect is caused by the inheritance of one in 6000 males.


Diagnosis:
It can be detected after one year of birth signs of scales and flakes developing on the skin gradually.

  • Prenatal Screening is also suggested
  • Protein valuation in body testing
  • Steroid Activity Essay
  • Genetic analysis
  • Skin Biopsy


Prognosis:
The disease is a chronic disease that doesn’t always lead to early death but has consequences. It can also result in:

  • Normal life expectancy
  • Reduction in Scales and improvement of skin over time.


Symptoms
Scales on Neck,Trunk and Lower Extremities,Extra lines on Palms, hands and soles of feet,Rough skin,Thick skin
Conditions
Prolonged labor for mother of infected infants,Undescended Testicles,Reduced ability to Smell,Corneal opacities,Testicular cancers
Drugs
Keratolytics,Isotretinoin,Tazarotene,Calcipotriol,Liarozole,Oral Acitretin,Oral Liarozole

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