Harlequin ichthyosis: A case report of severe presentation in Eritrea

Biswas

et al. 2022

Clinical Case Reports

Section: Discussionmentioning

confidence: 99%

Harlequin ichthyosis: A case report and literature review

Biswas

et al. 2022

Clinical Case Reports

“…14 In addition to this, obtaining a detailed account of family history, previous obstetric history, consanguinity between the parents, and the presence of other dermatological disorders in other offspring is equally important. 15 Postnatal diagnosis includes a skin biopsy that probably shows structural abnormalities of lamellar granules and epidermal keratin expression and is confirmed by testing for ABCA12 gene mutation. Generally, the late phenotypic expression of this condition possesses a challenge and leads to missed or delayed diagnosis on prenatal scans.…”

Section: Discussionmentioning

confidence: 99%

Harlequin Ichthyosis: a case report and literature review.

Shrestha¹,

biswas

et al. 2022

Preprint

SAGE Open Medical Case Reports

“…In previous studies conducted in Iran and Eritrea, infants with HI died after only a few days (range = 2–14 days). 25 – 28 With the recent advances in neonatal care in developed countries, many affected babies can now survive to adulthood. 4 , 18 Iran is yet to attain this stage of advancement, but with awareness creation and improvement in newborn care, this category of newborns may have better chances of survival.…”

Section: Discussionmentioning

confidence: 99%

Harlequin ichthyosis newborn: A case report

Nikbina

Sayahi

2022

Harlequin ichthyosis is a rare and severe genetic skin disorder that occurs within the developing foetus. Harlequin ichthyosis is the most severe and devastating form of autosomal recessive congenital ichthyoses. It is caused by mutations in the lipid transporter adenosine triphosphate binding cassette A 12. Here, we reported a case of harlequin ichthyosis with no family history. No abnormalities were detected in prenatal sonography. A 24-year-old pregnant woman with premature rupture of membrane and labour pain was referred to a hospital in Shoushtar city, Iran. The mother delivered a male baby with harlequin ichthyosis. The infant baby died on the 5th day. Harlequin ichthyosis is associated with adenosine triphosphate binding cassette A 12 gene mutation; therefore, genetic screening and counselling for susceptible parents should be taken into account. Prenatal diagnosis of harlequin ichthyosis principally via sonographic techniques is important in managing the disorder.