Harlequin Pt.2
Kuvakäsikirjoitus Teksti
- Mutations in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells
- What are the symptoms of this disorder?
- Symptoms include eyelids turning upside down, eyes not closing, ears fused to the head , limited mobility in legs and breathing problems.
- What are the treatment options?
- Most harlequin infants will need one-on-one nursing care for the first several weeks of life. After the thick plates peel off, the skin is left dry and reddened, and may be covered in large thin scales. The skin symptoms are treated by applying skin softening emollients.
- We will do everything we can to help your newborn, Mrs.Jasmine.
- Thank you, Dr.Adams. I appreciate it.
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