Ichthyosis lamellaris

Ichthyosis lammellaris, also known as (recessive) lamellar ichthyosis and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people.

Presentation

Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.

Genetics

This condition is an autosomal recessive genetic disorder, which means the defective gene is located on an autosome, and both parents must carry one copy of the defective gene in order to have a child born with the disorder. Carriers of a recessive gene usually do not show any signs or symptoms of the disorder.

Ichthyosis lamellaris is associated with a deficiency of the enzyme keratinocyte transglutaminase.

Associated Medical Problems

Overheating - the scaling of the skin prevents normal sweating so hot weather and/or vigorous exercise can cause problems.

Eye problems - The eyelids can be puled down by the tightness of the skin and this can make eyelids (but usually just the lower one) very red and they are prone to drying and irritation.

Constriction bands - Very rarely children with this condition can have tight bands of skin around their fingers or toes (usually at the tips) which can prevent proper blood circulation to the area.

Hair loss Severe scaling of the skin on the scalp can lead to patchy loss of hair but this is rarely permanent.

Treatments

As with all types of ichthyosis, there is no cure but the symptoms can be relieved.

• Moisturizers
• Prevention of overheating
• Eye drops- Prevent the eyes from becoming dried out

Psychological therapy or support may be required as well.

See also

• Ichthyosis
• Bullous congenital ichthyosiform erythroderma

External links

• F.I.R.S.T. - Foundation for Ichthyosis and Related Skin Types at http://www.scalyskin.org/
• British Ichthyosis Support Group (ISG)