Quoted from wikipedia-
“Harlequin-type ichthyosis (also harlequin ichthyosis, ichthyosis congenita, Ichthyosis fetalis or keratosis diffusa fetalis), a skin disease, is the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin. In sufferers of the disease, the skin contains massive, diamond-shaped scales, and tends to give off a reddish color. In addition, the eyes, ears, mouth, and other appendages may be abnormally contracted. The scaly keratin greatly limits the child’s movement. Because the skin is cracked where normal skin would fold, it is easily pregnable by bacteria and other contaminants, resulting in serious risk of fatal infection.
Sufferers are known as harlequin fetuses, harlequin babies, or harlequins.
The harlequin-type designation comes from both the baby’s apparent facial expression and the diamond-shape of the scales (resembling the costume of Arlecchino), which are caused by severe hyperkeratosis. The disease can be diagnosed in the uterus by way of fetal skin biopsy or by morphologic analysis of amniotic fluid cells obtained by amniocentesis. In addition, doctors can now usually recognize common features of the disease through ultrasound, and follow up with 3D ultrasound can diagnose the condition.”
Also…
“In the past, the disorder was invariably fatal, whether due to dehydration, infection (sepsis), restricted breathing due to the plating, or other related causes. The most common cause of death was systemic infection and sufferers rarely survived for more than a few days. However, there have been improvements in care, most notably the drug Isotrexadolescence. Some patients have survived into and, in very rare cases, lived to adulthood.”
The last bit surprised me. I thought it was basically 100% fatal, even today. It’s good that they’re developing treatments for it, though I’m now wondering what life would be like for a surviving harlequin baby.
Composing members:
0
Composing members:
0
