[Harlequin ichthyosis--medical and psychosocial challenges]. / Ichthyosis congenita gravis--eine medizinische und psychosoziale Herausforderung.
Klin Padiatr
; 222(2): 86-69, 2010 Mar.
Article
in De
| MEDLINE
| ID: mdl-20166009
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ichthyosis, Lamellar
Type of study:
Diagnostic_studies
Aspects:
Patient_preference
Limits:
Humans
/
Infant
/
Male
/
Newborn
Country/Region as subject:
Asia
/
Europa
Language:
De
Journal:
Klin Padiatr
Year:
2010
Document type:
Article