Case Of Harlequin Ichthyosis Research Articles

A RARE CASE OF HARLEQUIN ICHTHYOSIS SUCCESSFULLY TREATED WITH ACITRETIN: A CASE REPORT AND LITERATURE REVIEW

Harlequin Ichthyosis is the most serious congenital keratinization disorder. When the children are born, they are enveloped in thick horn armor. They are thick yellow horn plates that tear deeply when they dry out. In the most severe form, the children often die in the first few weeks of life. But there are also many milder courses, whereby there are obviously flowing transitions from collodion baby to harlequin ichthyosis. The skin condition later corresponds to that of a child with severe congenital ichthyosis (ARCI). Similar to the collodion baby, cases of harlequin ichthyosis should initially be cared for in the intensive care unit for newborns and require interdisciplinary therapy. Harlequin ichthyosis is caused by very special mutations in the ABCA12 gene. These mutations also have an impact on survival. If homozygous mutations are present, the prospects are worse than if the parents have heterozygous mutations. Homozygous mutations are often present when the parents are consanguineous.

Vibrio Cholerae Septicemia and Harlequin Ichthyosis: Outstanding Association

Background: Harlequin ichthyosis is a rare and fatal fetal disorder, most often complicated by infection. Sepsis due to Vibrio cholerae is rare, especially in neonatology. The association between ichthyosis and Vibrio cholerae infection has never been described in medical literature. Introduction: We report the case of a newborn admitted to the neonatal intensive care unit, with a typical characteristics of Harlequin ichthyosis and a sepsis due to Vibrio cholerae, diagnosed with the blood culture. The outcome was fatal; characterized by death six hours after his hospitalization. Conclusion: Cases of Harlequin ichthyosis complicated with septicemia with Pseudomonas Aeruginosa have been described. Vibrio cholerae infections are usually confined to the gastrointestinal tract but some species, especially non-01 strains, can cause extra-intestinal infections including septicemia and meningitis.

Facial features in Harlequin ichthyosis: Clinical findings about 4 cases

We report 4 cases of Harlequin ichthyosis, which is a rare and severe congenital ichthyosis involving the face. Facial appearance consists in severe ectropion, conjonctival edema, eclabium, flattened ears, broadened nose and large, thick, plate-like skin scales. Recent advances in neonatal care have been made, such as retinoid therapy, and have led to an increased survival rate. Early surgical correction of ectropion may be required because of ocular complications.

A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis

A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis

Harlequin ichthyosis: A rare dermatological disorder

Introduction: Harlequin ichthyosis is one of the most devastating of the genodermatoses. Neonates usually die within the first few days of life from infection or dehydration related complications. Prenatal diagnosis remains difficult but may be possible in high risk pregnancies by performing a fetal skin biopsy or by three-dimensional ultrasonography. Case Report: We report the case of Harlequin ichthyosis for its rarity and briefly review literature. Conclusion: This case has been reported for the rarity of Harlequin ichthyosis and to create awareness among pediatricians to identify the condition promptly.

Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation

A case of harlequin ichthyosis with compound heterozygous mutations in ABCA12 was successfully managed with intensive neonatal care and endotracheal intubation and without oral retinoids. The individual's appearance improved dramatically during hospitalization and at discharge resembled congenital ichthyosiform erythroderma.

Repair of cicatricial ectropion in a harlequin baby

The ichthyoses are a collection of scaling skin diseases or keratinizing skin disorders giving the appearance of "fish skin," of which harlequin ichthyosis is the most severe form. It is characterized by profound thickening of the keratin skin layer, armorlike scales that cover the body, and contraction abnormalities of the eyes, ears, and mouth. We report a case of a 6-week-old boy with harlequin ichthyosis and severe bilateral upper and lower eyelid cicatricial ectropion who underwent surgical repair with full-thickness postauricular skin autografts. To our knowledge, this is the youngest reported case and the only case of harlequin ichthyosis in which postauricular skin grafts were used.

P44.21: A case of Harlequin ichthyosis

P44.21: A case of Harlequin ichthyosis

Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; Report of two cases

Two cases of harlequin ichthyosis were successfully diagnosed prenatally by fetal skin biopsy. The aborted fetuses were later confirmed to be afflicted with this very unusual skin disease. Both families had a previous history of harlequin ichthyosis. In performing the biopsy, it was found that amniotic fluid cytology can also be very helpful in the diagnosis of this kind of severe ichthyosis. With regard to these families, the disease may have been transmitted in an autosomal dominant fashion, and not in a recessive manner as is commonly believed.