What's harlequin ichthyosis born baby

Harlequin ichthyosis is an extremely rare and severe genetic skin disorder affecting newborns. Here's a concise overview of key characteristics and considerations:

**Physical Presentation at Birth:**
- Thick, diamond-shaped plates of skin resembling armor or fish scales
- Deep red fissures between skin plates
- Severe ectropion (eyelids turned outward) and eclabium (lips pulled taut)
- Flattened ears and nose due to skin constriction
- Contracted fingers/toes and limb deformities
- Breathing difficulties due to restricted chest movement

**Medical Reality:**
- Caused by ABCA12 gene mutations affecting skin barrier formation
- Survival rates have improved dramatically with NICU care (now ~50%+)
- Requires immediate intensive care: humidified incubator, protective ointments, tube feeding
- Lifelong management needed: meticulous skin care, infection prevention, eye lubrication

**Current Outlook:**
With aggressive neonatal treatment, survivors often live into adulthood but face:
- Chronic skin shedding/scaling requiring hours of daily care
- High risk of dehydration and infections
- Temperature regulation challenges
- Potential vision complications
- Developmental delays possible but not universal

The visual impact is profound, but modern medicine has transformed outcomes—where once uniformly fatal, today many children reach developmental milestones with specialized care. Prenatal testing can detect the condition via ultrasound or genetic screening.

*Note: Graphic medical images exist online; please search mindfully if seeking visual references.*