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The diagnosis of harlequin-type ichthyosis 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.
Ichthyosis comes from Greek ἰχθύς (ichthys) 'fish', since dry, scaly skin is the defining feature of all forms of ichthyosis. [ 4 ] The severity of symptoms can vary enormously, from the mildest, most common, types such as ichthyosis vulgaris , which may be mistaken for normal dry skin, up to life-threatening conditions such as harlequin ...
Netherton syndrome is a severe, autosomal recessive [1] form of ichthyosis associated with mutations in the SPINK5 gene. [ 2 ] [ 3 ] It is named after Earl W. Netherton (1910–1985), an American dermatologist who discovered it in 1958.
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Diagnosis of Harlequin syndrome is made when the individual has consistent signs and symptoms of the condition, therefore, it is made by clinical observation. In addition, a neurologist or primary care physician may require an MRI test to rule out similar disorders such as Horner's syndrome, Adie's syndrome , and Ross' syndrome . [ 3 ]
Ichthyosis vulgaris (autosomal dominant ichthyosis, ichthyosis simplex) Ichthyosis with confetti; Neonatal ichthyosis–sclerosing cholangitis syndrome (ichthyosis–sclerosing cholangitis syndrome, NISCH syndrome) Incontinentia pigmenti achromians (hypomelanosis of Ito) Immune dysfunction–polyendocrinopathy–enteropathy–X-linked syndrome
Eclabium can be a lifelong disorder, but drug treatment for the causing disease would heal the lips as well. For example for harlequin ichthyosis drugs such as Tazarotene [citation needed] and isotretinoin [citation needed] have been used to help the skin heal and loosen up which helps the eclabium heal. But sometimes surgery might become ...
A loss of functional ABCA12 protein causes numerous problems with the development of the epidermis before and after birth. Abnormalities in lipid transport prevent the skin from forming an effective barrier and result in the hard, thick scales characteristic of harlequin ichthyosis.