Harlequin IchthyosisSymptoms, Doctors, Treatments, Advances & More
Harlequin Ichthyosis Overview
Learn About Harlequin Ichthyosis
Harlequin ichthyosis is a severe genetic disorder that affects the skin. Infants with this condition are born prematurely with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure in babies with harlequin ichthyosis. Affected infants also have feeding problems.
Variants (also known as mutations) in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) and enzymes in the outermost layer of skin (the epidermis).
Harlequin ichthyosis is very rare; its exact incidence is unknown.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Dedee Murrell practices practicing medicine in Kensington, Australia. Murrell is rated as an Elite expert by MediFind in the treatment of Harlequin Ichthyosis. They are also highly rated in 42 other conditions, according to our data. Their clinical expertise encompasses Epidermolysis Bullosa, Pemphigus, Pemphigus Vulgaris, and Pemphigus Foliaceus.
Denny Cottle practices practicing medicine in Clayton, Australia. Mr. Cottle is rated as an Elite expert by MediFind in the treatment of Harlequin Ichthyosis. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Harlequin Ichthyosis, Lamellar Ichthyosis, Nonbullous Congenital Ichthyosiform Erythroderma, and Fetal Retinoid Syndrome.
Keith Choate is a Dermatologist practicing medicine in New Haven, Connecticut. Dr. Choate is rated as a Distinguished provider by MediFind in the treatment of Harlequin Ichthyosis. He is also highly rated in 30 other conditions, according to our data. His clinical expertise encompasses Nonbullous Congenital Ichthyosiform Erythroderma, Darier Disease, Epidermolytic Hyperkeratosis, and Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limbs Defects.
Published Date: January 07, 2022
Published By: National Institutes of Health