A genetic disorder due to chromosomal disbalance or mutation that result in scaly and flaky skin in male is called Ichthyosis X Linked disease.
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.
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
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.
Scales on Neck,Trunk and Lower Extremities,Extra lines on Palms, hands and soles of feet,Rough skin,Thick skin
Prolonged labor for mother of infected infants,Undescended Testicles,Reduced ability to Smell,Corneal opacities,Testicular cancers
Keratolytics,Isotretinoin,Tazarotene,Calcipotriol,Liarozole,Oral Acitretin,Oral Liarozole