Recurrent Case of a Rare and Devastating Entity: Harlequin Ichthyosis
| Autor: | Özgür Kan, Aysegul Alkilic, Elif Nazlı Çetindağ Aydin |
|---|---|
| Přispěvatelé: | [Belirlenecek], TOBB ETU, Faculty of Medicine, Department of Surgical Sciences, TOBB ETÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Alkılıç, Ayşegül |
| Rok vydání: | 2019 |
| Předmět: |
Mikrobiyoloji
Tıbbi Laboratuar Teknolojisi Nörolojik Bilimler Radyoloji Nükleer Tıp Tıbbi Görüntüleme Transplantasyon Medicine Anatomi ve Morfoloji Sağlık Bilimleri ve Hizmetleri Enfeksiyon Hastalıkları Patoloji Dermatoloji Cerrahi Alerji Odyoloji ve Konuşma-Dil Patolojisi Hücre Biyolojisi Ichthyosis Tıbbi İnformatik Harlequin Ichthyosis Kadın Hastalıkları ve Doğum Onkoloji Periferik Damar Hastalıkları Psikiyatri Tropik Tıp Gastroenteroloji ve Hepatoloji Harlequin-type ichthyosis ichthyosis Romatoloji Biyoloji medicine.medical_specialty Temel Sağlık Hizmetleri Harlequin type ichthyosis Biyoteknoloji ve Uygulamalı Mikrobiyoloji Kalp ve Kalp Damar Sistemi Endokrinoloji ve Metabolizma Anestezi Biyofizik Klinik Nöroloji Üroloji ve Nefroloji Solunum Sistemi Acil Tıp Androloji Spor Bilimleri Kulak Burun Boğaz Halk ve Çevre Sağlığı Geriatri ve Gerontoloji Genel ve Dahili Tıp Fizyoloji Göz Hastalıkları İmmünoloji business.industry Tıbbi Araştırmalar Deneysel medicine.disease Tıbbi Etik Dermatology Adli Tıp Pediatri Ortopedi Hematoloji Tamamlayıcı ve Entegre Tıp Rehabilitasyon Biyokimya ve Moleküler Biyoloji Yoğun Bakım Tıp business |
| Zdroj: | Turkiye Klinikleri Journal of Case Reports. 27:72-74 |
| ISSN: | 2147-9291 |
| DOI: | 10.5336/caserep.2018-62258 |
| Popis: | Harlequin ichthyosis (HI) is a rare and severe form of congenital ichthyosis caused by truncating mutations in the ABCA12 gene. Although it has many distinctive signs on perinatal sonography such as short limbs, wide gaping mouth, joint contractures, edema of the hands and feet and cloudy amniotic fluids, it usually can not be diagnosed until birth. Herein, we report a case of recurrent HI, which remained undiagnosed until labor at 38 weeks of gestational age. A multiparous woman presented to hospital at 38th weeks of gestation. There were no personal or family history. Vaginal delivery was performed and a 3300 gram baby was delivered. The body of the neonate was covered with thick, armor like skin, have generalized edema and erythematous fissures, scanty hair, everted eyelids with exposed swollen conjunctiva, open mouth were noted at the first examination. Newborn was diagnosed to be having Harlequin ichthyosis and was given to neonatal intensive care unit (NICU) for supportive care and additional examination. Genetic counseling is important and should be recommended to affected families. With the growing technology electron microscopes, invasive prenatal diagnostic tools and 3D sonography may reveal suggestive features of the disease. In addition, new treatment regimens, experienced and competent NICU facilities may increase survival rates. |
| Databáze: | OpenAIRE |
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