Disambiguation: Harlequin ichthyosis
2 articles available
| Medicine > Dermatology Therapy |
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| Harlequin ichthyosis; harlequin baby; ichthyosis congenita; keratosis diffusa fetalis; harlequin fetus Severe form of congenital ichthyosis, characterized by profound thickening of the keratin layer in fetal skin, producing a horny shell of platelike scale and contraction abnormalities of the eyes,... |
| Biomedical and Life Sciences > Atlas of Genetic Diagnosis and Counseling |
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| Harlequin ichthyosis is a rare severe scaling disorder and the most devastating congenital ichthyosis, which manifests in utero and is often fatal early in life. Congenital ichthyosis of harlequin type; Harlequin fetus Inheritance: autosomal recessive ABCA12 gene Located on chromosome 2q34 Consists of... |