P24.12: Congenital ichthyosis (Harlequin fetus)
نویسندگان
چکیده
منابع مشابه
Harlequin ichthyosis (or harlequin fetus)
The pat ient was a female neonate bor n prematurely on 36 weeks of gestation by normal vaginal delivery. During pregnancy, mother had no history of fever, drug use or x-ray exposure. The mother was gravida 2 and had no history of abortion. Her first baby was well. On physical examination, the skin was markedly thickened, hard and hyperkeratotic with deep crevices running transversely and vertic...
متن کاملIchthyosis congenita, harlequin fetus type: a case report.
Ichthyosis is a very heterogeneous family of skin disorders with harlequin ichthyosis being the most severe genetic form. It is a rare autosomal recessive condition, characterized by dry, severely thickened skin with large plates of hyperkeratotic scale, separated by deep fissures. Infants are very susceptible to metabolic abnormalities and infections. They usually do not survive for very long,...
متن کاملHarlequin ichthyosis: Case report
Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis (HI) is marked by severe keratinized and alligator-like horned skin. The present study reports a new case with ...
متن کاملHarlequin ichthyosis: A rare case
Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. The prognosis is very poor in these cases. Here, we report one such rare ...
متن کاملharlequin ichthyosis
it is an autosomal recessive, and occasionally autosomal dominant mutant extremely rare disorder with only 100 reported case in literature. this fatal disorder occur in both sexes and all races. in most circumstances the newborn die soon after birth also it is known as harlequin fetus, alligator baby or keratosis diffusa fatalis. because of its rarity, we report 2 cases of this disorder, here.
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2012
ISSN: 0960-7692
DOI: 10.1002/uog.12090