[Harlequin ichthyosis--medical and psychosocial challenges].

[lamellar ichthyosis]

Harlequin ichthyosis is the most severe congenital keratinizing disorder . It is caused by mutations in the ABCA 12 gene leading to defective lipid transport . The infants are born with ectropion , eclabium and fissured plate-like skin . Today these infants can survive with neonatal intensive care and retinoid therapy and need long -term interdisciplinary treatment in order to improve quality of life . However , the outcome in our case is impaired by severe psychomotor developmental delay , which has not yet been associated with Harlequin Ichthyosis .

Diseases
Validation

Diseases presenting "severe congenital" symptom

aniridia

congenital diaphragmatic hernia

harlequin ichthyosis

hydrocephalus with stenosis of the aqueduct of sylvius

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

pyruvate dehydrogenase deficiency

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