scholarly journals Postnatal diagnosis of harlequin ichthyosis a case report

2021 ◽  
Vol 7 (2) ◽  
pp. 40-43
Author(s):  
Mohammed Ahmed Ibrahim Ahmed ◽  
Mohamed Ali Saad Mohamed ◽  
Salwa Ahmed Mohammed Abbas ◽  
Athar Asim Ahmed Mohammed ◽  
Nosiba Ibrahim Hammed Alyamani
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Neonatal Death ◽  
Poor Prognosis ◽  
Autosomal Recessive ◽  
Inheritance Pattern ◽  
Extreme Type ◽  
Postnatal Diagnosis ◽  
Harlequin Ichthyosis ◽  
Epidermal Membrane

Objective: Ichthyoses are cornification disorders in which irregular epidermal separation and desquamation result in a faulty epidermal membrane. Harlequin ichthyosis (HI) was a rare and extreme type that led to neonatal death. It was caused by mutations in the ABCA12 gene, and the inheritance pattern is autosomal recessive. Case report: We present a case of HI that was diagnosed postnatally by clinical review. Extreme ectropion, eclabium, flattened nose, and primitive ears were discovered in the fetus. As a result of HI complications, the fetus died. Conclusion: The presence of HI was linked to a poor prognosis and a high mortality rate. Prenatal ultrasound and genetic analysis were critical for prenatal diagnosis of HI, but genetic modalities were not available and were prohibitively costly, despite their utility in providing appropriate prenatal therapy to families with HI babies. This case was recorded because of its rarity, as well as to draw attention to the connection between.

scholarly journals Prenatal diagnosis of harlequin ichthyosis: a case report

2020 ◽  
Vol 63 (1) ◽  
pp. 94
Author(s):  
Mudunuri Vijayakumari ◽  
Desai. Kamalakar Reddy ◽  
Madhavilatha Routhu ◽  
Manasvi Vuchuru ◽  
Nallamilli Sunitha Reddy
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Harlequin Ichthyosis

Differential diagnosis of pseudotrisomy 13 syndrome

2012 ◽  
Vol 1 (1-2) ◽  
Author(s):  
Danízar Vásquez Carlón ◽  
Margarita Alvarez de la Rosa Rodríguez ◽  
Ana I. Padilla Pérez ◽  
Ingrid Martínez Wallin ◽  
Juan M. Troyano Luque
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Poor Prognosis ◽  
Autosomal Recessive ◽  
Literature Search ◽  
Normal Karyotype ◽  
Autosomal Recessive Disorder ◽  
Limited Information ◽  
The Poor ◽  
Similar Phenotype

AbstractPseudotrisomy 13 syndrome is determined by the combination of three findings: holoprosencephaly, postaxial polydactyly, and a normal karyotype. We report two cases of a prenatal diagnosis of pseudotrisomy 13 syndrome and one case of a suspected hydrolethalus syndrome, another disorder with a similar phenotype and karyotype. Thorough literature search yields limited information, and the genetic cause of this syndrome remains unclear; however, it is thought to be monogenic and inherited as an autosomal recessive disorder. Given the poor prognosis and the easily recognizable malformations associated with this disease, it is important to perform an early diagnosis.

scholarly journals Prenatal Diagnosis of Harlequin Ichthyosis: A Case Report

2020 ◽  
Vol 2 (4) ◽  
pp. 244-247
Author(s):  
Qiu-Ling Xia ◽  
Xing Wang ◽  
Shuai Huang ◽  
Jun-Nan Li
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Harlequin Ichthyosis

scholarly journals Harlequin Ichthyosis: Case Report

2019 ◽  
Vol 77 (1) ◽  
pp. 55-58
Author(s):  
Patrícia A. Couto ◽  
Marcela C. Pastore ◽  
Jessica C. N. Araújo ◽  
Cecilya M. Mota ◽  
Caroline A. R. Chirano ◽  
...  
Keyword(s):  
Intensive Care ◽  
Case Report ◽  
Early Diagnosis ◽  
Supportive Care ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Congenital Disease ◽  
Early Introduction ◽  
Harlequin Ichthyosis

Harlequin ichthyosis is a rare autosomal recessive congenital disease in which neonates present generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, malformation of the auricular pavilion and typical facies. Although several complications related to the skin restriction may occur, support in intensive care and early introduction of systemic retinoids, such as acitretin, have significantly contributed to patients' survival and improved prognosis. The purpose of this report is to present a rare case of harlequin ichthyosis and to discuss strategies for early diagnosis and first supportive care.

scholarly journals Harlequin fetus born from Consanguinity: A deleterious case report

2019 ◽  
Vol 35 (5) ◽  
Author(s):  
Joti Devnani ◽  
Ujalla Kumari ◽  
Zil-e- Rubab
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Original Work ◽  
Tertiary Care ◽  
Consanguineous Marriage ◽  
Live Births ◽  
Creative Commons ◽  
Harlequin Ichthyosis ◽  
Open Access Article ◽  
Autosomal Recessive Pattern

Harlequin Ichthyosis (HI) is a dreadful skin disorder with steady rise of cases with prolonged survival. Harlequin fetus follows an autosomal recessive pattern with the incidence of 1in 300,000 live births. In the succeeding case report, a male child was born with keratinized and kaleidoscopic diamond pattern of skin suggestive of HI. He was born at 36th week of gestation from consanguineous marriage. The newborn remained under extensive intensive care in a tertiary care unit where he breathed his last on 11th day after birth. Prenatal diagnosis and genetic counseling is of vital importance due to the association of ABCA12 mutation with HI. doi: https://doi.org/10.12669/pjms.35.5.916 How to cite this:Devnani J, Kumari U, Zil-e-Rubab. Harlequin fetus born from Consanguinity: A deleterious case report. Pak J Med Sci. 2019;35(5):---------. doi: https://doi.org/10.12669/pjms.35.5.916 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

scholarly journals Prenatal diagnosis of autosomal recessive polycystic kidney disease. A case report.

1999 ◽  
Vol 66 (3) ◽  
pp. 188-190
Author(s):  
Katsuya Mine ◽  
Shunji Suzuki ◽  
Shouichi Watanabe ◽  
Rintaro Sawa ◽  
Yoshio Yoneyama ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Polycystic Kidney

scholarly journals Prenatal diagnosis of autosomal recessive osteopetrosis: a case report

2014 ◽  
Vol 7 (Suppl 1) ◽  
pp. P125
Author(s):  
Mehul Mistri ◽  
Harsh Patel ◽  
Tanmay Tanna ◽  
Chitra Ankleshwaria ◽  
Frenny Sheth ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Osteopetrosis

scholarly journals Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Kazuhiro Kajiwara ◽  
Tomohiro Tanemoto ◽  
Chie Nagata ◽  
Aikou Okamoto
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Cesarean Section ◽  
Poor Prognosis ◽  
Three Dimensional ◽  
Review Of The Literature ◽  
Premature Rupture ◽  
Emergency Cesarean ◽  
Postnatal Treatment

Agnathia is a rare disease characterized by the absence of a mandible. Few cases of prenatally diagnosed isolated agnathia have been reported. We present a case report and review of the literature of prenatally diagnosed agnathia. A 38-year-old woman (gravida 0, para 0) was referred to our hospital at 28 weeks and 3 days of gestation for fetal evaluation because of polyhydramnios and suspected facial anomalies. Three-dimensional ultrasonography and MRI indicated agnathia. Premature rupture of the membranes occurred before the parents could reach a decision on the postnatal treatment. We performed emergency cesarean section on the second day of the 33rd week of gestation. The neonate was deemed nonresuscitable and he died of airway obstruction shortly after birth. Because agnathia is associated with very poor prognosis, accurate prenatal diagnosis and detailed counseling should be promptly provided before unexpected delivery to the parents for the determination of postnatal treatment.

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