ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids

ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids

Harlequin ichthyosis (HI) is associated with high mortality. Early systemic retinoids are widely used, although their use remains debatable. We reported two neonates with homozygous mutations in ABCA12 consistent with harlequin ichthyosis who survived to discharge home with intensive care and withou...

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Veröffentlicht in:Pediatric dermatology 2019-05, Vol.36 (3), p.339-341
Hauptverfasser: Sharma, Amit, Rozzelle, Arlene, Jahnke, Marla N., Desai, Jagdish, Shwayder, Tor A., Kisseih, Esther, Bryant, Justin R., Agarwal, Prashant
Format: Artikel
Sprache:eng
Schlagworte:
ATP-Binding Cassette Transporters - genetics
Case reports
Female
Humans
Ichthyosis
Ichthyosis, Lamellar - diagnosis
Ichthyosis, Lamellar - genetics
Ichthyosis, Lamellar - therapy
Infant, Newborn
Male
Mutation
Mutation - genetics
neonatal
Neonates
Newborn babies
Retinoids
Retinoids - therapeutic use
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Zusammenfassung:Harlequin ichthyosis (HI) is associated with high mortality. Early systemic retinoids are widely used, although their use remains debatable. We reported two neonates with homozygous mutations in ABCA12 consistent with harlequin ichthyosis who survived to discharge home with intensive care and without use of systemic retinoids.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.13770