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International Journal of Clinical Obstetrics and Gynaecology

International Journal of Clinical Obstetrics and Gynaecology

Print ISSN: 2522-6614, Online ISSN: 2522-6622

International Journal of Clinical Obstetrics and Gynaecology

2019, Vol. 3, Issue 6, Part A

Keratosis diffusa fetalis: A rare case report
Author(s): Renuka, Nabapure Shilpa, PS Rashmi and Prabhudev Prema
Abstract:
Harlequin Ichthyosis is the most severe form of congenital Ichthyosis presenting at birth. It is characterized by thick, fissured armor-plate hyperkeratosis, ears and nose deformities, ectropion, eclabium with fish mouth appearance, flexion deformities of all joints and hypoplastic digits. It is a very rare disorder with autosomal recessive inheritance. Perinatal mortality is high and the survivors develop severe erythroderma subsequently. We report a case of Harlequin Ichthyosis not only because of its rarity but also its tendency to occur in consecutive pregnancies. We recommend to have a genetic screening and counseling in all high risk couples e.g. consanguinity marriages as well as having more studies to diagnose and determine the best mode to deliver a baby with HI.
Conclusion: Early diagnosis and genetic counseling of the parents is an important step in managing Harlequin Ichthyosis. We recommend to have a genetic screening and counseling in all high risk couples e.g. consanguinity marriages, and with family history of Harlequin icthyosis or previous child born with Harlequin icthyosis preimplantation genetic diagnosis can be done by screening for ABCA12 gene in both affected baby and parents.
Pages: 18-20 | 844 Views | 172 Downloads
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How to cite this article:
Renuka, Nabapure Shilpa, PS Rashmi, Prabhudev Prema. Keratosis diffusa fetalis: A rare case report. Int J Clin Obstet Gynaecol 2019;3(6):18-20. DOI: 10.33545/gynae.2019.v3.i6a.386
International Journal of Clinical Obstetrics and Gynaecology