Harlequin Ichthyosis: Case Report of a Rare Type of Ichthyosis
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2015, Vol 5, Issue 4
Abstract
Aims: The purpose of this study is to present a case of Harlequin fetus, which is extremely rare. Presentation of Case: A 27-year-old woman, gravida 3 para 1, was referred to the clinic with a diagnosis of preterm premature rupture of membranes. Upon ultrasound examination, a fetus with oligohydramnios at 30 weeks of pregnancy was determined. Fetal cardiac activity was present. The fetal nose and ears could not be visualized. The fetal mouth was opened wide and the lips were invisible. The wrists of the upper extremities were edematous. A cesarean section was performed, and a female fetus weighing 1140 g, 44 cm in length, and with 1st and 5th minutes Apgar scores of 6–8 was delivered. The fetal body was covered with dense keratin plaques, her eyes were in ectropion, and her nose and ears were also covered by thick keratin plaques. Eclabium lips, edematous wrists on the extremities, and the hands and feet in flexion were observed. The fetus died 24 hours later in the neonatal intensive care unit. The mother said that her second baby had the same conditions and died on postpartum day one. Discussion and Conclusion: Harlequin ichthyosis is extremely rare and is a severe congenital anomaly that has autosomal recessive inheritance patterns. Prenatal diagnosis can be based on the ultrasound findings and parents’ family history; this can contribute to our understanding of the disease and progress of pregnancy.
Authors and Affiliations
Ali Irfan Güzel, Aytekin Tokmak, Aydan Sezer Kara, Ahmet Yalınkaya
Keywords
Related Articles
- EP ID EP345061
- DOI 10.9734/BJMMR/2015/12584
- Views 65
- Downloads 0
Periodontal Health Prevention in Radiated and Healthy Elderly Using Mouthwashes of Quercus ilex
Aims: The use of aqueous extracts of Quercus ilex as a mouthwash is reduced by 80% periodontal disease in healthy patients and patients with radiated head and neck cancer, in addition to increasing salivary flow and neut...
Hemoglobin Concentration Level during Pregnancy and Its Association with Birth Weight
Introduction: The study aimed to assess the relationship between early pregnancy Hemoglobin (Hb) concentration and weight gain status in pregnant women and birth weight. Material and Methods: This is a retrospective stud...
Geneneralised Idiopathic Acanthosis Nigricans- A Severe Presentation in a Nigerian Girl
Acanthosis nigricans is characterized by hyperpigmented and velvety verrucous plaques observed as symmetric eruptions. We report a 22 year old girl with generalized idiopathic acanthosis nigricans with no family history,...
A Novel Sclerectomy Technique for Glaucoma and Ocular Hypertension Treatment
Purpose: To introduce and evaluate the efficacy and safety of a new surgical scleral technique for treatment of glaucoma based on the concept of scleral biomechanics. Methods: Twelve 3-month-old New Zealand white rabbit...
Effect of Nurse-led Training on Self-management of Diabetes among Diabetic Patients Attending Medical Outpatient Clinic in General Hospital Odan,
Aims: Diabetes mellitus is a common metabolic disease associated with poor quality of life and great financial burden. Despite training on self-management of diabetes mellitus, its knowledge and practice among diabetic p...