Summary about Disease
Lamellar ichthyosis is a rare genetic skin disorder characterized by large, dark, plate-like scales covering the entire body. These scales are often separated by deep cracks (fissures). Infants are often born encased in a collodion membrane, which is a shiny, translucent layer of skin that sheds within a few weeks. After the collodion membrane sheds, the characteristic scales of lamellar ichthyosis become apparent. The condition is lifelong and can cause discomfort, limited movement, and increased risk of infection.
Symptoms
Large, dark, plate-like scales all over the body
Scales separated by deep cracks (fissures)
Collodion membrane at birth (shiny, translucent skin layer)
Ectropion (eyelids turned outward)
Eclabium (lips turned outward)
Scarring alopecia (hair loss)
Palmoplantar keratoderma (thickening of skin on palms and soles)
Dry, itchy skin
Decreased sweating (hypohidrosis)
Heat intolerance
Causes
Lamellar ichthyosis is caused by genetic mutations, most commonly in the TGM1 gene, which encodes transglutaminase 1, an enzyme important for skin barrier formation. These mutations are inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to be affected. Other genes, such as ABCA12, ALDH3A2, CYP4F22, LIPN and PNPLA1 can also cause the condition when mutated.
Medicine Used
Emollients (moisturizers): Topical creams and ointments containing urea, lactic acid, or propylene glycol to hydrate and soften the skin.
Keratolytics: Topical medications like salicylic acid or alpha-hydroxy acids to help shed scales.
Retinoids: Oral retinoids (e.g., acitretin, isotretinoin) can help normalize skin cell growth and reduce scale formation. Note: Oral retinoids have potential side effects and require careful monitoring.
Topical retinoids: Topical medications like tazarotene and tretinoin, used to normalize skin cell growth and reduce scale formation.
Is Communicable
No, lamellar ichthyosis is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Regular Skin Care: Frequent bathing and application of emollients are essential to keep the skin hydrated.
Avoid Harsh Soaps: Use gentle, fragrance-free cleansers to avoid irritating the skin.
Humidification: Maintain a humid environment, especially in dry climates.
Sun Protection: Protect the skin from the sun with sunscreen and protective clothing.
Eye Care: Regularly use lubricating eye drops if ectropion is present to prevent corneal damage.
Avoid Overheating: Dress in lightweight clothing and avoid strenuous activities in hot weather due to potential impaired sweating.
Genetic Counseling: Families with a history of lamellar ichthyosis should seek genetic counseling.
How long does an outbreak last?
Lamellar ichthyosis is a chronic, lifelong condition. There are no outbreaks in the traditional sense. The symptoms, such as scaling and dryness, are persistent but can fluctuate in severity.
How is it diagnosed?
Clinical Examination: Based on the characteristic appearance of the skin, including the large, dark scales.
Skin Biopsy: A small sample of skin is examined under a microscope to confirm the diagnosis and rule out other conditions.
Genetic Testing: DNA analysis can identify mutations in genes known to cause lamellar ichthyosis, confirming the diagnosis and allowing for genetic counseling.
Timeline of Symptoms
At Birth: Often born with a collodion membrane (shiny, translucent skin).
Within Weeks: Collodion membrane sheds, revealing the characteristic large, dark scales.
Childhood/Adulthood: Persistent scaling, dryness, and other related symptoms continue throughout life, with varying degrees of severity.
Important Considerations
Psychosocial Impact: The visible skin condition can significantly impact self-esteem and social interactions. Psychological support and counseling may be beneficial.
Complications: Potential complications include skin infections, dehydration, and heat intolerance.
Multidisciplinary Care: Management requires a multidisciplinary approach involving dermatologists, geneticists, ophthalmologists, and other specialists.
Medication Monitoring: Oral retinoids require close monitoring for potential side effects.
Support Groups: Connecting with other individuals and families affected by ichthyosis can provide valuable support and information.