Ichthyosis lamellaris

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	Ichthyosis lamellaris;
ICD-10	Q80.2
OMIM	242300
DiseasesDB	30052
eMedicine	derm/190
MeSH	D017490

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Kiran Singh, M.D. [2]

Overview

Ichthyosis lammellaris, also known as (recessive) lamellar ichthyosis and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting less than 1 person in 300,000.

Pathophysiology

Genetics

Ichthyosis lamellaris has an autosomal recessive pattern of inheritance.

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.

Diagnosis

Symptoms

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. As the child grows, other symptoms manifest themselves, including rapid nail and hair growth. The skin can be put under tension by the scaling, possibly resulting in small ears, inflexible fingers and ectropion, the turning outwards of the eyelids or lips.

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.