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Іхтіоз Арлекіна

ORPHA:457· ICD-10 Q80.4· Harlequin ichthyosis

Визначення(English summary)

A rare autosomal recessive congenital ichthyosis characterized at birth by the presence of large, thick, plate-like shell over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. Harlequin ichthyosis is the most severe disorder of this group.

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
Neonatal