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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A Parent's Guide to Harlequin Ichthyosis
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'
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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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