ichthyosis harlequin (harlequin fetus)
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Genetics
- associated with defects in ABCA12
Clinical manifestations
- severe skin disorder in which the neonate is born with a thick covering of armor-like scales
- the skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'
- normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, & nostrils
- affected babies are often born prematurely & rarely survive the perinatal period