Harlequin ichthyosis with genital ambiguity in Iran: A case report

2021 ◽  
Vol 1 (1) ◽  
pp. 31-33
Author(s):  
Mehrbanoo Amirshahi ◽  
Fatemeh Mirshekari ◽  
Mahin Badakhsh
Keyword(s):  
Case Report ◽  
Genital Ambiguity ◽  
Harlequin Ichthyosis

scholarly journals Two successive cases of fetal harlequin ichthyosis: A case report

2018 ◽  
Author(s):  
Qianhong Liang ◽  
Fu Xiong ◽  
Xuankun Liang ◽  
Dongming Zheng ◽  
Shuguang Su ◽  
...  
Keyword(s):  
Case Report ◽  
Harlequin Ichthyosis

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

scholarly journals Harlequin ichthyosis: a case report of prolonged survival

2014 ◽  
Vol 2014 (mar07 1) ◽  
pp. bcr2013200884-bcr2013200884 ◽  
Author(s):  
A. A. Mithwani ◽  
A. Hashmi ◽  
S. Shahnawaz ◽  
Y. Al Ghamdi
Keyword(s):  
Case Report ◽  
Prolonged Survival ◽  
Harlequin Ichthyosis

scholarly journals Harlequin ichthyosis - a rare genetic disorder : a case report

2015 ◽  
Vol 04 (04) ◽  
pp. 199-201
Author(s):  
Arnab Ghosh ◽  
B C Dutta ◽  
Sudipta Pal
Keyword(s):  
Case Report ◽  
Life Expectancy ◽  
Genetic Disease ◽  
Genetic Factors ◽  
Genetic Disorder ◽  
Treatment Protocol ◽  
Present Treatment ◽  
Harlequin Ichthyosis ◽  
Micro Anatomy ◽  
Affected Infant

AbstractHarlequin lchthyosis(HI) is a type of genodermatosis. It is a rare and fatal genetic disease. Life expectancy in an affected infant is only a few days. The defect lies in mutation of ABCA12 gene. The barrier action of skin is severely compromised making the infant prone to infections and dehydration. Present treatment protocol consists mainly of conservative and supportive therapies. The authors report this case as it is a rare disease. The main purpose of this report is to create awareness about the disease and discuss the genetic factors along with micro anatomy of skin ultimately leading to this condition.

Total Hip Replacement in an Adolescent Patient with Harlequin Ichthyosis; A Case Report

2011 ◽  
Vol 21 (4) ◽  
pp. 487-489 ◽  
Author(s):  
James C. Beazley ◽  
Kevin Ho ◽  
Andrew Ilchyshyn ◽  
Pedro Foguet
Keyword(s):  
Case Report ◽  
Total Hip Replacement ◽  
Hip Replacement ◽  
Adolescent Patient ◽  
Total Hip ◽  
Harlequin Ichthyosis

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: A CASE REPORT

2015 ◽  
Vol 4 (91) ◽  
pp. 15700-15701 ◽  
Author(s):  
Sadashiva Ukkali ◽  
Veena Patil ◽  
Emad A Rajgoli ◽  
Jafar Moideen Kutty ◽  
Mohammed Zeeshan Desai
Keyword(s):  
Case Report ◽  
Harlequin Ichthyosis

scholarly journals Full term delivery of a Harlequin ichthyosis baby: a case report

2017 ◽  
Vol 7 (2) ◽  
pp. 1-6
Author(s):  
Ahmed M Abbas ◽  
Armia Michael ◽  
Ayman A. Askar ◽  
Shymaa S. Ali
Keyword(s):  
Case Report ◽  
Full Term ◽  
Term Delivery ◽  
Harlequin Ichthyosis ◽  
Full Term Delivery

Harlequin ichthyosis: A rare case report

2015 ◽  
Vol 64 ◽  
pp. S57
Author(s):  
A. Ghosh ◽  
B.C. Dutta ◽  
S. Pal
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Rare Case Report ◽  
Harlequin Ichthyosis
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