A Case Report of Harlequin Ichthyosis
نویسندگان
چکیده مقاله:
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, was reported. On initial examination by a pediatrician, thick skin was observed with deep transverse clefts and hyper keratinization, and the infant was the infant was discharged because of absence of respiratory disorder and regularity of heart rate.
منابع مشابه
Harlequin 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 ...
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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 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,...
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عنوان ژورنال
دوره 10 شماره 2
صفحات 206- 214
تاریخ انتشار 2021-05
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