MCQ MAHE 2000 Pediatrics Answer 08

The Correct Answer is B

Harlequin ichthyosis, (MIM 242500), is a rare, autosomal recessive skin disorder due to an inborn error of epidermal keratinization. The gene for this condition has not been localized.

Harlequin-type ichthyosis (also harlequin ichthyosis, ichthyosis congenita, 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 appears as massive, diamond-shaped scales. 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.

Note:
Harlequin color change is an unusual but rather dramatic skin coloration change of the newborn during the first few minutes of life. It might be observed in the delivery room or shortly thereafter. When the infant is placed on his or her side, there is a dramatic and sharp demarcation in color between one side of the body and the other. One side (the lower if the baby is on its side) is bright red; the other side is pale. The line of demarcation is strikingly sharp and exactly bisects the body down the middle. This color change only lasts a few minutes, and may only involve the face or trunk. It is caused by immaturity of the nervous system's control over blood vessel dilatation in the skin. It is totally harmless, and merely a medical curiosity with no permanent effects whatsoever.

Category: MAHE 2000 MCQs