Harlequin ichthyosis: A case report and literature review
oleh: Abhigan Babu Shrestha, Prince Biswas, Sajina Shrestha, Romana Riyaz, Muhammad Hassnain Nawaz, Shumneva Shrestha, Labiba Hossainy
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2022-12-01 |
Deskripsi
Abstract Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but ultrasonography in places was not available.