​Dermatology - Lamellar Ichthyosis

​Dermatology - Lamellar Ichthyosis 
Lamellar ichthyosis is a rare genetic skin disorder characterized by the presence of dry, scaly skin. It is inherited in an autosomal recessive manner, meaning that both parents must carry the gene for the condition in order for their child to be affected. The condition often manifests at birth and is estimated to occur in less than 1 in every 300,000 individuals.

Patients experience heat intolerance, typically during physical activity and high temperatures, as a result of the inability to perspire and excessive dehydration caused by transepidermal water loss. Children experience an elevated need for nutrients as a result of their rapid growth and peeling of the outermost layer of their skin, known as the stratum corneum.
Abnormalities
Lamellar ichthyosis manifests in newborns as a condition known as collodion baby, characterized by the infant being enveloped in a transparent membrane resembling collodion, which is shed after a few weeks. During childhood, the entire body is covered in enormous, parchment-like patches of thickened skin called hyperkeratoses. These patches can break and form a pattern that resembles tiles. The scales are extensive, thick, and brown, covering most of the body. They are particularly prominent on the lower extremities and affect the flexural areas. Verrucous hyperkeratosis can occur around the joints. Keratoderma and increased palmar/plantar creases are present on the hands and feet, and erythroderma may occur. The hair is constrained by scales and recurrent infections can lead to scarring alopecia. The presence of nail dystrophy is a result of inflammation in the nail fold. The eyes exhibit ectropion, and the lips display eclabium.


The differential diagnosis comprises X-linked ichthyosis, epidermolytic hyperkeratosis, congenital ichthyosiform erythroderma, and syndromic ichthyoses. Exclude the possibility of subsequent infection and sepsis, particularly in babies.


Infants should be admitted to the neonatal critical care unit and placed in a chamber with high humidity. They should get emolliation and be closely checked for electrolyte levels, fluid intake, and symptoms of infection. During childhood, it is important to maintain skin hydration by using emollients like hydrated petrolatum. Parents and individuals who are impacted should get instructions regarding the potential risks of overheating and heat prostration that may occur as a result of physical exercise, exposure to high environmental temperatures, and fever. Consistently applying water to the skin can partially substitute the function of sweating, resulting in the cooling of the body. As the patient matures, retinoids such as acitretin and, to a lesser extent, isotretinoin (at a dosage of 0.5–1 mg/kg) have proven to be beneficial. Nevertheless, it is imperative to consistently check blood triglyceride levels, transaminase levels, and any potential harmful effects on the bones.