Harlequin Ichthyosis: A Case Report
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2017, Vol 16, Issue 1
Abstract
Ichthyosis is a very heterogeneous family of skin disorders with harlequin ichthyosis being the most severe genetic form. It is a rare autosomal recessive condition, characterized by dry, severely thickened skin with large plates of hyperkeratotic scale, separated by deep fissures. Infants are very susceptible to metabolic abnormalities and infections. They usually do not survive for very long, but several long term survivals have been noted. The vast majority of affected individuals are homozygous for mutations in the ABCA12 gene, which cause a deficiency of the epidermal lipid transporter, resulting in hyperkeratosis and abnormal barrier function. We report a case of a newborn with harlequin ichthyosis, born to unrelated parents, who had been given topical treatment along with other supportive treatment and expired on 6th days of life.
Authors and Affiliations
Dr. Arup Ratan Mondal, Dr Gautham. D, Dr. Hamar Bathew Buam, Dr. Muhamed Anees Kalady, Prof Y. T. Singh
Keywords
Related Articles
- EP ID EP589544
- DOI 10.9790/0853-160107103105
- Views 56
- Downloads 0
Fibrous Dysplasia- A review Article
Objective: To collected and concluded a literature review on the diagnosis and management of facial fibrous dysplasia in head and neck region. Materials And Methods: The review was searched and collected from many source...
Efficacy of Tetracycline Fibre as Local Drug Delivery over scaling and root planing in Nonsurgical Management of Chronic Periodontitis
Background- Periodontal disease is primarily caused by specific group of microorganisms which colonizes tooth surfaces in the form of a biofilm called dental plaque. Periodontal diseases include conditions such as chroni...
A Case Report on Near Miss Case of Acute Uterine Inversion after Delivery
Uterine inversion is a rare obstetric emergency that can lead to neurogenic shock or even maternal death. There are many management strategies, but they are poorly dispersed in the medical literature. In our case a third...
A Comparison of Intrathecal Fentanyl or Placebo Added To Bupivacaine in Prevention of Intra-Operative and Early PostOperative Emesis in Cesarean Section Performed Under Spinal Anaesthesia
Background: The high incidence of intraoperative nausea and vomiting in cesarean section under spinal anaesthesia is distressing to the parturients and disturbing to the surgeons by causing protrusion of abdominal viscer...
A Comparative Study of Pulmonary Function Tests in Healthy Punjabi working and non-working Females -Effect of Air Pollution on Lungs
Inhalation of polluted air over a long period of time leads to proliferation and fibrotic change in lungs. Early recognition of this damage provides an important clue to insure goodhealth. Spirometery is an invaluable sc...