Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. The newborn infant is covered with plates of thick skin that crack and split apart. A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Harlequin syndrome. Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence.
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The ears may be very poorly developed or absent entirely, as may the nose.
The eyelids may be everted ectropionwhich leaves the eyes and the area around them very susceptible to arlequin enfermedad. The lips are pulled back by the dry skin eclabium. Joints are sometimes lacking in movement, and may be below the arlequin enfermedad size.
Hypoplasia is sometimes found in the fingers. Polydactyly has also been found on occasion.
Harlequin-type ichthyosis - Wikipedia
In addition, the fish mouth appearance, mouth breathing, and xerostomia place affected individuals at extremely high risk for developing rampant dental decay.
Respiration is also restricted by the skin, which impedes the chest wall from expanding and drawing in enough air. This can lead to arlequin enfermedad and respiratory failure. Patients are often dehydratedas their plated skin is not well suited to retaining water. Diagnosis[ edit ] The diagnosis of harlequin-type ichthyosis relies on both physical examination and certain laboratory arlequin enfermedad.
Physical assessment at birth is vital for the initial diagnosis of harlequin ichthyosis. Arlequin enfermedad examination reveals characteristic symptoms of the condition especially the abnormalities in the skin surface of arlequin enfermedad.
Abnormal findings in physical assessments usually result in employing other diagnostic tests to ascertain the diagnosis.
Genetic testing is the most specific diagnostic test for harlequin ichthyosis.
This test reveals a loss of function mutation on the ABCA12 arlequin enfermedad. This gene is important in the regulation of protein synthesis arlequin enfermedad the development of the skin layer. Mutations in the gene may cause impaired transport of lipids in the skin layer and may also lead to shrunken versions of the proteins responsible for skin development.
Less severe mutations result in a collodion membrane and congenital arlequin enfermedad erythroderma-like presentation. ABCA12 is thought to arlequin enfermedad a lipid transporter in keratinocytes necessary for lipid transport into lamellar granules during the formation of the lipid barrier.
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Histological findings usually reveal hyperkeratotic skin cells, which leads to a thick, white and hard skin layer. Treatment and prognosis[ edit ] Constant care is required to moisturize and protect the skin. The hard outer layer eventually peels off, leaving the vulnerable inner layers of the dermis exposed.
Early complications result from infection due to fissuring of the hyperkeratoic plates and respiratory distress due to physical restriction of chest wall expansion. Management arlequin enfermedad supportive care and treatment of arlequin enfermedad and skin barrier dysfunction.