Rare Diseases Symptoms Automatic Extraction

Harlequin ichthyosis.

[harlequin ichthyosis]

A 2-hour-old newborn boy hospitalized in the neonatal intensive care unit was examined for unusual cutaneous lesions. He had firm plaques covering his body, with fissures especially in flexural areas. Other remarkable findings included edematous hands and feet, ectropion, eclabium, and contractures (Figure). Topical emollients and etretinate were advised, but the newborn died a few hours later. The parents were first-degree relatives. There was no family history of similar lesions. On the basis of clinical features, the diagnosis of harlequin ichthyosis was made.