Lamellar ichthyosisis one of several types of skin disorders (skin disorder) which is calledichthyosis.
Ichthyosisis a term for a severe and persistent dry skin condition that almost always begins in childhood or infancy. Ichthyosis can be genetic (inherited) or can develop later in life.
What are the symptoms oflamellar ichthyosisand how to handle it? Check out the following review.
Definition of Lamellar Ichthyosis
Lamellar ichthyosis(LI) is a rare genetic skin disorder. This condition is also often calledCollodion Baby Syndrome. Quoting from the official website of the National Organization for Rare Disorders, this disease is one of three genetic skin disorders calledautosomal recessive congenital ichthyoses(ARCI) .
Lamellar ichthyosisis a condition that primarily affects the skin. People with LI typically have large, dark, flake-like scales covering most of their body.
When a baby withlamellar ichthyosisborn, they appear to be wrapped in a tight, shiny membrane that resembles plastic wrap. This membrane is called thecollodionand usually will break and peel off over a few weeks. When the membrane has completely fallen off, the baby may show one of several types ofichthyosis.
Congenital ichthyosiform erythroderma(CIE) andlamellar ichthyosisis a formichthyosismost commonly seen with collodion membranes.
However, membranes can also be found in Netherton syndrome and other forms.ichthyosisanother very rare one, namelyHarlequin ichthyosis.In very rare cases, babies are born with membranescollodion,but shows no signs ofichthyosis. This phenomenon is calledself healing ichthyosis.
In patientslamellar ichthyosis, the skin eventually looks red or dark and looks like it is split, and looks very tight and affects the shape of the eyes and mouth which are pulled.
In this condition, the outer layer of skin called the epidermis cannot protect the body as a healthy epidermis can. The body of someone with LI does create skin cells at a normal rate but they do not separate from each other on the surface of the skin as they should. In addition, the body does not shed dead skin cells properly, causing brown scales to form.
Symptom
Baby withlamellar ichthyosiscan experience infections, excessive fluid loss (dehydration), and breathing problems. Here are some common characteristics that can be found in babies withlamellar ichthyosis.
- Born covered by a clear membrane (collodion)
- Tight dark or reddish skin
- It is difficult to extend the fingers because the skin on the hands is very tight.
- After the membrane ruptures, wide, dark scales appear on the body.
- More likely to develop various skin infections
- It’s hard to close your eyes because the skin is so tight.
- Thick nails
- Difficulty breastfeeding
- Loss of fluids ( dehydration )
- Loss of mineral balance in the body (electrolyte imbalance)
- Respiratory problems
- Unstable body temperature
Older children and adults with LI may have the following symptoms:
- There are scales that cover most of its body.
- Decreased ability to sweat resulting in sensitivity to heat
- Hair loss
- Abnormal finger and toenails
- Thickened skin on the palms of the hands and soles of the feet
Causes of Lamellar Ichthyosis
Lamellar ichthyosiscaused by changes/mutations in the genes responsible for providing instructions for making enzymes and proteins found in the outermost layer of the skin (epidermis). These enzymes and proteins are essential for the normal development, function, and shedding of skin cells.
Skin disorders associated with LI will interfere with the normal formation of the epidermis, resulting in impaired body temperature regulation, water retention, and resistance to infection.
The most common gene associated with this condition is TGM1. Mutations in the TGM1 gene are responsible for about 90 percent of LI cases.
The TGM1 gene provides instructions for making an enzyme calledtransglutaminase. This enzyme is involved in the formation of the sheath, which is a structure that surrounds skin cells and helps form a protective barrier between the body and its environment. Mutations in the TGM1 gene result in greatly reduced or absent production of the enzyme, which prevents the formation of the sheath.
Other gene mutations that studies have shown to cause Lamellar ichthyosis include NIPAL4, ALOX12B, and CYP4F22.
Frequency of Occurrence
LI occurs in about one in 200,000 people. It can affect people of all genders, races, and ethnicities.
Risk Factors
LI is inherited in a recessive manner. Recessive genetic disorders occur when an individual inherits a non-functioning gene from each parent.
If a person receives one functioning gene and one non-functioning gene for a disease, that person will be a carrier of the disease orcarrier, but usually will not show symptoms.
Risks for both parentscarrierto inherit a non-functioning gene to have a child with a recessive genetic disorder such as LI is 25% in each pregnancy. While the risk of having a child who iscarrierlike their parents is 50% in each pregnancy.
Diagnosis
Prenatal diagnosislamellar ichthyosiscan be done by electron microscopic examination of fetal skin biopsies or amniotic fluid cells obtained via fetoscopy.
Alternatively, a skin biopsy can be performed and examined by light and electron microscopy for histological features, or to detect TGM1 gene expression and activity.
Complications of Lamellar Ichthyosis
Eye Irritation
In some cases, the skin around the eyes of someone with LI can be pulled so tightly that it causes the eyelid to fold outward. This can irritate the inner eyelid and dry out the eyeball. Some doctors recommend surgery to prevent damage to the eyeball and vision problems.
Alopecia (Hair Loss)
People with LI may also experience hair loss due to the thickness of the scales on their scalp.
Abnormal Skin
Individuals with LI typically have reddened skin (erythema) and deformed joints (contractures). They also have abnormal fingernails and toenails (nail dystrophy).
Hypohidrosis
Inflammatory skin conditions like LI also affect the sweat glands. When the sweat glands stop working properly, you won’t be able to sweat.
Sweating is the body’s way of cooling itself. The inability to sweat can cause the body to become too hot. This can lead to heat stroke, which is a potentially life-threatening condition.
Handling
Source: Freepik
To diagnose and treat LI, sufferers may need to see medical specialists such as:
- Clinical geneticist and/or genetic counselor
- Dermatologist
- Ophthalmologists
Tests for problems with body temperature regulation and skin moisture as well as tests for infection may be needed to get the right treatment.
LI is usually treated topically and doctors use creams that help improve the condition.skin barrier. Medications that can help the process of exfoliating dead skin cells can also help LI sufferers. The treatments usually used are:
- Skin cream containing ceramide or cholesterol
- Moisturizer with petrolatum or lanolin
- Mild keratolytic
- Topical retinoids for severe cases of LI
- Lotions or creams containing lactic acid
If LI is itchy on the skin and drives the sufferer to keep scratching until it causes a skin infection, antibiotics may be needed from time to time.
Prevention
Because of allichthyosisUsually caused by a gene mutation, there is no way to prevent the condition. As with other genetic diseases, there is a risk that the children of affected parents will inherit the gene.
If you or your partner are worried about becomingcarrierfor skin disorders, for example if there is a historyichthyosisin the family, it is best to consult a doctor, especially before planning a pregnancy.
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There are many diseases or disorders that occur due to genetic mutations such asLamellar ichthyosis. Although it cannot be prevented, proper diagnosis and treatment can help sufferers.
Republished with permission from theAsianParent Indonesia
