Harlequin disease adult

Arch Dermatol. Dr Lestringant is a consultant dermatologist retired. In each case, the causative ABCA12 mutation was identified using standard polymerase chain reaction and sequencing techniques. Recurrent skin infections in infancy affected one-third of patients. With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing. Compound heterozygotes appear to have a survival advantage.
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11.12.2019
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A Parent's Guide to Harlequin Ichthyosis

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Harlequin ichthyosis: MedlinePlus Genetics

We include products we think are useful for our readers. If you buy through links on this page, we may earn a small commission. Harlequin ichthyosis, sometimes called Harlequin baby syndrome or congenital ichthyosis, is a rare condition affecting the skin. The skin of a newborn with Harlequin ichthyosis is covered with thick, diamond-shaped plates that resemble fish scales.
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Harlequin ichthyosis sufferer says 'people ask me if I've been in a fire'

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures.
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Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born 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.
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