How Is Lamellar Ichthyosis Treated?

About 10 percent of children born with lamellar ichthyosis heal completely after the baby loses the affected layer of skin and grows up to have normal skin.

Treatment options for lamellar ichthyosis include:

• Moisturizing creams and bathing
  • Always keep the skin moisturized by using moisturizing lotions and ointments frequently throughout the day.
  • To avoid allergic responses, moisturizing agents should be fragrance-free and clear of additives.
  • Use bath oils to prevent skin dryness and irritation from bathing.
• Emollients and creams
  • Emollients and keratolytic (anti-scaling) creams containing urea, lactic acid, and propylene glycol could be used to keep the skin moist and hydrated.
  • May use ceramide-containing creams and moisturizers with petrolatum or lanolin.
  • Sometimes, mild keratolytic agents or topical retinoids are used as treatment options.
• Antibiotics
  • Antibiotics treat secondary skin infections, and mild antiseptics can provide extra protection to the skin.
  • Washing with an antimicrobial emollient may help reduce the risk of skin infection.
• Retinoids (oral drugs)
  • Synthetic vitamin A derivatives drugs can enhance the look of the skin by inhibiting the excessive development of the outer skin layer.
  • Although they are frequently beneficial, they cause several side effects, which should be thoroughly addressed and evaluated before beginning the treatment.
• Eye drops
  • Moisturizing eye drops might help keep the eyes from drying.
  • If ectropion (everted eyelids) prevents the eyelids from shutting at night, consult an ophthalmologist (eye doctor).
• Ear, nose, and throat (ENT) consultations
  • People may get a buildup of dead skin in their ears, and regular visits to an ENT doctor should prevent complications, such as hearing loss.
• Physiotherapy
  • People may experience contractures or issues with finger flexibility. Non-elastic tissues replace elastic tissues in these appendages.
  • Some people find that physiotherapy and night splinting can help alleviate this condition.
• Support
  • Active sports may cause people to get tired and overheated easily. They may require more rest than others, and instructors should be aware of this condition.
  • Individuals should have access to hydrating fluids all the time.
  • Peeling skin, especially on the face, can be challenging. It may impair self-confidence, requiring further assistance. General practitioners must recognize psychological impacts and assist the family accordingly by arranging consultations with additional health experts.
• Managing secondary infections and complications
  • Antibiotics to treat infection
  • Vasoactive drugs to lower the blood pressure
  • Insulin regulates the blood sugar
  • Corticosteroids in cases of sepsis and inflammation
  • Surgical intervention to remove damaged tissue or drain fluid from a tissue to treat sepsis infection.

Researchers are investigating the use of anti-inflammatory medications for lamellar ichthyosis and attempting to design therapies depending on gene alteration. This method might lead to improved therapy. Some studies are evaluating whether enzyme replacement therapy (ERT) might be used as a therapeutic option. However, only those with specific gene mutations would be able to avail of ERT.

Lamellar ichthyosis is a genetic disorder. Genetic anomalies result in abnormal growth of the epidermis, resulting in decreased control of body temperature, water retention, and infection resistance. These cause transepidermal water loss, epidermal hyperproliferation, and inflammation.

Genes that may cause lamellar ichthyosis

The following genes encode instructions to produce enzymes and proteins. Appropriate skin cell formation, function, and shedding require these enzymes and proteins.

• TGM1 (encodes instructions to produce an enzyme called transglutaminase 1)
  • Classic lamellar ichthyosis is strongly linked to the TGM1 gene. People with a TGM1 gene mutation are more prone to experience severe symptoms.
  • Cause for about 90 percent of lamellar ichthyosis cases.
  • Transglutaminase 1 enzyme is involved in the production of the cornified cell envelope, a structure that surrounds skin cells and contributes to constructing a protective barrier between the body and its environment.
  • TGM1 gene mutations eliminate enzyme synthesis, preventing the production of the cornified cell membrane.
• ABCA12 (responsible for making a protein called ATP-binding cassette transporter 12)
• CYP4F22 (responsible for making a subfamily 4F protein called cytochrome P450)
• SDR9C7 (reduces short-chain fatty acids)
• SULT2B1 (codes for the enzyme cholesterol sulfotransferase)
• ALOX12B
• ALOXE3
• NIPAL4 or ICHTHYIN

Unknown causes

• Approximately 20 percent of cases have no currently identifiable gene abnormality, implying that other genes are involved in this phenotype.

Autosomal recessive

• Lamellar ichthyosis is caused by a TGM1 gene mutation and is inherited in an autosomal recessive way. Both parents must be healthy carriers for the abnormality to be passed to the child.

Autosomal dominant transmission

• Cases of ichthyosis with the autosomal dominant transmission have been documented. The condition was passed down from a sick parent. In such a case, a child has a 50 percent chance of developing the condition.

Inheritance

• If both parents have an autosomal recessive disorder, their offspring will inherit the mutant genes. If only one mutant copy of the gene is inherited, the person will be a carrier of the illness but will not exhibit any symptoms.
• Children born to two carriers have a 25 percent probability to be a homozygous dominant (unaffected), a 50 percent probability to be a heterozygous (carrier), and a 25 percent probability to be a homozygous recessive (affected).

Risk factors for lamellar ichthyosis

• A positive family history of ichthyosis.
• Consanguineous marriages (the mother and father are related by blood)

Lamellar ichthyosis is thought to affect 1 in every 100,000 people in the United States. This condition is more frequent in Norway (1 in 91,000 people are affected).

Skin cells are generated at a normal rate in people with lamellar ichthyosis. However, they do not separate normally at the surface of the stratum corneum (the outermost layer of the skin) and are not lost as rapidly as they should be. Scales forms as a result of this retention.

The signs and symptoms of lamellar ichthyosis differ among people. The symptoms can be mild to severe.

Common signs and symptoms of lamellar ichthyosis

• Babies' skin has a tight adherent layer called a collodion membrane. Within the first two weeks of life, the membrane sheds. The skin behind the membrane is red and scaly.
• The skin on the hands could be tight, preventing them from extending their fingers.
• Dry scaly skin
• Giant scales that cover most of the body
• Impaired ability to maintain temperature and hydration
• Eye-related defects
• Baldness
• Defective nail growth
• Frequent infections
• Scale buildup in ear canals
• Frequent dehydration
• Difficulty feeding
• Electrolyte imbalance
• Breathing problems
• Decreased ability to sweat, causing sensitivity to heat
• Thickened skin on the palms and soles

There is no diagnostic test for lamellar ichthyosis; the existence of the collodion membrane help diagnose the condition. Doctors commonly use genetic testing to confirm the type of ichthyosis.

A newborn is frequently wrapped with a collodion membrane, which is a thick, membrane-like cover that normally desquamates or peels off within a few days. It eventually progresses to a chronic pattern of huge polygonal scales covering the entire body.

The skin changes deteriorate with age and may become more noticeable; the extent and severity of lamellar ichthyosis may worsen.

Vaseline or petroleum jelly

• People with ichthyosis should use petroleum jelly or Vaseline.
  • Apply Vaseline or other moisturizing lotions containing keratolytic agents and salicylic acid two times daily.
  • Some dermatological oils are prescribed by a dermatologist to treat symptoms of ichthyosis.
• Because Vaseline is the most common over-the-counter petroleum jelly available, it might be a cost-effective alternative to relieve symptoms. Petroleum jelly helps bind moisture to your skin, alleviating dryness and irritation.

Sunshine

• Sunshine can help with ichthyosis, but too much sun might be harmful. When going outside, always put on sunscreen.
  • Consult your doctor or dermatologist about precautions before exposing the skin to the sun.
  • Sunscreens can lower the risk of sunburn and skin cancer in people with Ichthyosis.

Prevention tips for lamellar ichthyosis include:

• People should regularly get vaccinated for flu, pneumonia, and other infections.
• Take care of yourself by taking regular baths, cleaning your hands, and carefully caring for wounds.
• When you have an infection, get immediate medical attention. When identified early, sepsis is easily treated.
• Use massaging creams on your palms and below your eyes to prevent tightening of the skin.
• Lubricating creams and ointments should be applied immediately after dabbing dry the skin after taking a bath

Usually, lamellar ichthyosis requires taking care of the skin for life, such as keeping the skin moist to reduce the thickness of the scales.

• Life expectancy is typically unaffected in people with lamellar ichthyosis.
• People with lamellar ichthyosis have delayed development due to malfunctioning of the skin permeability barrier, which leads to decreased vitamin D synthesis, increased water retention, and calorie loss.
• Lamellar ichthyosis causes significant psychological stress in affected people.
• People with lamellar ichthyosis live normal lives, but subsequent sepsis and hypernatremic dehydration increase the chance of mortality in the first few months of life.