[Harlequin ichthyosis--medical and psychosocial challenges].
Harlequin ichthyosis is the most severe congenital keratinizing disorder. It is caused by mutations in the ABCA12 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.
Eilers
E
E
Klinik für Neonatologie, Campus Virchow Klinik, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin.
Stieler
K
K
Thies
C
C
Blume-Peytavi
U
U
Obladen
M
M
Hüseman
D
D
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D017255:Acitretin / Q000627:therapeutic use; D001291:Attitude of Health Personnel; D002872:Chromosome Deletion; D003131:Combined Modality Therapy; D003241:Consanguinity; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000523:psychology / Q000628:therapy; D054242:Emigrants and Immigrants; D004750:Enteral Nutrition; D005091:Exons / Q000235:genetics; D005440:Fluid Therapy; D005858:Germany; D006720:Homozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology* / Q000628:therapy; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010154:Pakistan / Q000208:ethnology; D010290:Parents / Q000523:psychology; D026741:Physical Therapy Modalities
C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters; D017255:Acitretin