Harlequin-type Ichthyosis - Diagnosis

Diagnosis

The diagnosis of harlequin ichthyosis relies on physical examination and certain laboratory examinations including: Physical assessment at birth is very essential for the initial diagnosis of Harlequin ichthyosis. Physical examination reveals characteristic symptoms of the condition especially the abnormalities in the skin surface of newborns. 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 mutation on the ABCA12 gene. This gene is important in the regulation of protein synthesis for 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 small versions of the proteins responsible for skin development. Genetic testing is done by getting a sample of the newborn’s DNA. Biopsy of skin may be done to assess the histologic characteristics of the cells. Histological findings usually reveal a hyperkeratotic skin cells, which leads to a thick and hard skin layer.