Harlequin Ichthyosis: A report of two cases
نویسندگان
چکیده مقاله:
Harlequin ichthyosis is one of the most severe congenital skin cornification disorders with an incidence rate of about 1 in 300000 births and characteristic clinical features. We report two cases of harlequin ichthyosis (HI) or harlequin fetus (HF), which were products of consanguineous union. Clinical examination showed typical features of harlequin ichthyosis, with the presence of plaques with diamond-like configuration, external ear anomaly, severe ectropion and eclabium, and rigid semi flexion of limbs.
منابع مشابه
A Case Report of Harlequin Ichthyosis
Harlequin ichthyosis is the most severe form of congenital ichthyoses with horny (Keratinized) and chapped thick skin throughout the body. In this disease, disruption in keratinization of epidermis results in the impaired barrier function and susceptibility of the neonate to dehydration and infection. In this article, a term male neonate with harlequin ichthyosis, born of a 29-year-old mother, ...
متن کاملHarlequin ichthyosis: A case report from Iran
Harlequin ichthyosis is a rare and exceedingly severe form of congenital ichthyosis with an incidence of approximately 1 in 300,000 births. These patients are at a high risk for neonatalinfection and septicemia. Most affected infants die within the first days or weeks of life.We report a male baby born with harlequin ichthyosis. There is limited information regarding the course and...
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 in two siblings.
Harlequin ichthyosis is a rare and extremely severe form of congenital ichthyosis. The affected neonates usually do not survive beyond first few days after birth, but several long-term survivals have been noted. The inheritance is thought to be autosomal recessive. It has recently been shown that the vast majority of affected individuals are homozygous for mutations in the ABCA12 gene, which ca...
متن کاملHarlequin 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 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 ...
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عنوان ژورنال
دوره 8 شماره 2
صفحات 149- 154
تاریخ انتشار 2005-01-01
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