Lamellar ichthyosis is a rare genetic skin condition that causes symptoms such as skin scaling, dark plaques, dry eyes, and changes in the nails and fingers. It usually appears in newborns shortly after birth.
Lamellar ichthyosis, also known as nonbullous congenital ichthyosis, can increase the risk of skin infections. It can also cause excessive fluid loss, which may lead to severe dehydration.
Treatment for lamellar ichthyosis is guided by a pediatrician, primary care provider, or dermatologist. It aims to relieve symptoms and improve quality of life, and may include moisturizing creams or retinoid medications in more severe cases.
Main symptoms
The main symptoms of lamellar ichthyosis include:
-
Widespread scaling of the skin, often resembling fish scales
-
Thin, white plaques or thick, dark plaques covering much of the body
-
Hair loss in various areas
-
Thickened skin on the palms of the hands and soles of the feet
-
Heat intolerance
-
Reduced ability to sweat
Additional features may include chronic dry eyes, outward-turning eyelids (ectropion), small ears or ears that are attached to the skin, nail and finger deformities, and reduced hearing.
Lamellar ichthyosis can cause fissures or cracks in the skin, which may be very painful. According to the National Organization for Rare Disorders, lamellar ichthyosis can lead to severe dehydration, infection, and problems regulating body temperature. Skin stiffness and cracking may also reduce mobility.
These symptoms are typically present from birth. The child should be closely monitored by a pediatrician to ensure early diagnosis and start appropriate treatment, helping reduce the risk of infections and improve quality of life.
Confirming a diagnosis
Lamellar ichthyosis is diagnosed by a pediatrician shortly after birth by evaluating the baby’s skin.
To confirm the diagnosis, the doctor may order blood tests, molecular testing, and immunohistochemical tests to identify a mutation in the TGM1 gene.
Diagnosis can also be made during pregnancy through DNA analysis with amniocentesis, especially when there is a family history of lamellar ichthyosis.
Possible causes
Lamellar ichthyosis is caused by genetic mutations, mainly in the TGM1 gene. This gene helps produce adequate amounts of transglutaminase 1, a protein involved in skin formation.
Due to this mutation, transglutaminase 1 production is impaired. The body may produce little or none of this protein, leading to skin changes.
Because this disease is autosomal recessive, both parents must carry the altered gene for the child to develop the condition.
Treatment options
Treatment for lamellar ichthyosis should be guided by a pediatrician, dermatologist, or primary care provider. The goal is to relieve symptoms and improve quality of life.
Some treatment options that may be recommended by the doctor include:
1. Moisturizing creams
Moisturizing creams for lamellar ichthyosis may be recommended to help repair the skin barrier, hydrate the skin, remove dry layers of skin, and prevent skin hardening.
The most commonly recommended moisturizers contain petrolatum, urea, or alpha hydroxy acids, and should be applied right after bathing.
In some cases, the doctor may also recommend topical products with salicylic acid to help promote skin peeling.
2. Retinoid medications
Retinoid medications, in the form of creams or pills, may be recommended by a doctor because they help speed up skin renewal and increase sweat production, which can improve heat tolerance.
3. Artificial tears
If the child has dry eyes, the doctor may recommend artificial tears. These help lubricate the eyes in cases of chronic eye dryness.
4. Ointments for lamellar ichthyosis
In more severe cases, a doctor may also recommend antibiotic or corticosteroid creams to reduce the risk of skin infections or prevent scaling.
Is there a cure?
Lamellar ichthyosis has no cure because it is a genetic condition.
However, symptoms can be managed with the recommended treatments, helping improve the child’s quality of life.