The diagnosis of<unk>  relies on both physical examination and laboratory tests. Physical assessment at birth is vital 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 loss of function mutation on the ABCA12 gene. Biopsy of skin may be done to assess the histologic characteristics of the cells. Histological findings usually reveal hyperkeratotic skin cells, which leads to a thick, white and hard skin layer.
Harlequin-type ichthyosis
Harlequin-type ichthyosis  Harlequin-type ichthyosis  1
Abietic acid dermatitis
Keratosis
Papuloerythroderma of Ofuji
X-linked ichthyosis
Ichthyosis acquisita
Yellow nail syndrome