Volume 7, Issue 1 (2022)
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Niknafs F. A case report of an infant with harlequin ichthyosis. SJMR 2022; 7 (1) : 7
URL: http://saremjrm.com/article-1-259-en.html
URL: http://saremjrm.com/article-1-259-en.html
Sarem gynecology, Obstetrics and Infertilty Research Center, Sarem Women's Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran , FarzanehNiknafs@gmail.com
Abstract: (2144 Views)
Introduction: One of the rarest autosomal recessive genetic diseases is harlequin ichthyosis, which is caused by a mutation in the ABCA 12 gene. Its prevalence rate is 1 in every 300,000 births, and it often has a high mortality rate due to various secondary skin infections, severe dehydration, respiratory disorders, convulsions, and malnutrition.
Case: A 32-year-old woman became pregnant naturally; the pregnant mother had no family relationship with her husband and had no underlying diseases. She only had a history of laparoscopy and removal of the right fallopian tube due to ectopic pregnancy. The pregnancy period passed without any problem and in the 39th week, the delivery was performed naturally. A baby boy was born with ichthyosis and clown face and syndactyly syndrome.
Conclusion: It can be useful to carry out genetic testing for the ABCA 12 gene mutation, and careful examination of ultrasound, especially the shape of the mouth, by specialists for early diagnosis of this disease. Also, commencement of the necessary treatments immediately after birth along with training for skin care and breastfeeding of babies can significantly increase the survival rate of patients with clown ichthyosis. As well as, genetic counseling is also recommended.
Case: A 32-year-old woman became pregnant naturally; the pregnant mother had no family relationship with her husband and had no underlying diseases. She only had a history of laparoscopy and removal of the right fallopian tube due to ectopic pregnancy. The pregnancy period passed without any problem and in the 39th week, the delivery was performed naturally. A baby boy was born with ichthyosis and clown face and syndactyly syndrome.
Conclusion: It can be useful to carry out genetic testing for the ABCA 12 gene mutation, and careful examination of ultrasound, especially the shape of the mouth, by specialists for early diagnosis of this disease. Also, commencement of the necessary treatments immediately after birth along with training for skin care and breastfeeding of babies can significantly increase the survival rate of patients with clown ichthyosis. As well as, genetic counseling is also recommended.
Article number: 7
Article Type: Case Report |
Subject:
Women Diseases
Received: 2022/04/11 | Accepted: 2022/05/5 | Published: 2023/02/21
Received: 2022/04/11 | Accepted: 2022/05/5 | Published: 2023/02/21
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