Journal article
What’s your diagnosis? Harlequin ichthyosis
Journal of Clinical Images and Medical Case Reports, v 2(2)
12 Mar 2021
Abstract
Harlequin ichthyosis is associated with high morbidity and mortality in the past. However, fetal DNA analysis, 3 D facial antenatal ultrasound, and fetal skin biopsy significantly improved the diagnostic capabilities. The current advancement in treating these babies in level 3 neonatal intensive care units with a multidisciplinary team approach and early use of oral retinoids such as Acitretin, have made the outcomes better recently. Genetic counselling and prenatal screening are of vital importance after the birth of a baby with HI. In conclusion, it is necessary for the practicing clinicians to be aware of this diagnosis and the current management protocols if they come across a similar case.
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Details
- Title
- What’s your diagnosis? Harlequin ichthyosis
- Creators
- Giridhar GuntreddiJayasree Vasudevan NairSwayam Prabha NirujogiFamily Medicine, Tower health, Reading Hospital, Reading, PA 19611, USA
- Publication Details
- Journal of Clinical Images and Medical Case Reports, v 2(2)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Other Identifier
- 991021838601204721