Case Report
JBCGenetics. 2020; 3(2): 108-112

Infantile systemic hyalinosis: report of a case from Bahrain and review of literature

Authors: Zahra Alsahlawi, Fatema Naser Alfayez, Sayed Mohamed Hasan, Deena Mohammed, Emtethal Aljishi.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1596702951

Abstract

Background: Infantile systemic hyalinosis (ISH), an allelic form of hyaline fibromatosis syndrome, is a rare fatal autosomal recessive disorder that is caused by mutations in the CMG2/ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2. It has a compound of features due to the accumulation of hyaline material in multiple organs including characteristic skin lesions, joint contractures, persistent diarrhea, and failure to thrive. The resulting severe malnutrition can be the cause of death in early infancy. Due to its rarity and early high fatality rate, timely diagnosis is difficult, and children with ISH may die undiagnosed. Case Presentation: In this report, we describe a 3-year-old female diagnosed with ISH after reviewing her clinical and laboratory workup in Salmaniya Medical Hospital. She was diagnosed with ISH based on the clinical presentation of severe skin lesions, painful joint contractures, and later developed renal tubular acidosis. Her diagnosis was confirmed with skin histopathology and identification of homozygous ANTRX2 mutation, c.652T>C, p.Cys218Arg, and Chr4 (GRCh37): g.80957171A>G. Conclusion: While the clinical outcome of the disease is poor without curative treatment, establishing an early diagnosis of ISH, beginning with clinical suspicion to molecular analysis, is important for accurate management as well as carrier and risk assessment of family members.

Keywords:   Hyaline fibromatosis syndrome, infantile systemic hyalinosis, ISH, juvenile hyaline fibromatosis, ANTXR2.


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Infantile systemic hyalinosis: report of a case from Bahrain and review of literature


Authors
Zahra Alsahlawi
Pediatrician/Metabolic Disease and Clinical Genetics Consultant, Salmaniya Medical Complex, Kingdom of Bahrain
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Fatema Naser Alfayez
College of Medicine and Medical Sciences, Arabian Gulf University, Kingdom of Bahrain
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Sayed Mohamed Hasan
College of Medicine and Medical Sciences, Arabian Gulf University, Kingdom of Bahrain
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Deena Mohammed
Intern at Salmaniya Medical Complex, Kingdom of Bahrain
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Emtethal Aljishi
Intern at Salmaniya Medical Complex, Kingdom of Bahrain
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Correspondence to:
. Zahra Alsahlawi, Pediatric Department, Salmaniya Medical Complex, Kingdom of Bahrain.; dr_zahra1353@hotmail.com

Publication history
Received 06 Aug 2020
Revised 27 Aug 2020
Accepted 15 Sep 2020
Published online 28 Sep 2020
Published in print 30 Sep 2020

How to cite this article

Pubmed Style

Alsahlawi Z, Alfayez FN, Hasan SM, Mohammed D, Aljishi E. Infantile systemic hyalinosis: report of a case from Bahrain and review of literature. JBCGenetics. 2020; 3(2): 108-112. doi:10.24911/JBCGenetics/183-1596702951


Web Style

Alsahlawi Z, Alfayez FN, Hasan SM, Mohammed D, Aljishi E. Infantile systemic hyalinosis: report of a case from Bahrain and review of literature. https://www.jbcgenetics.com//?mno=121892 [Access: January 19, 2021]. doi:10.24911/JBCGenetics/183-1596702951


AMA (American Medical Association) Style

Alsahlawi Z, Alfayez FN, Hasan SM, Mohammed D, Aljishi E. Infantile systemic hyalinosis: report of a case from Bahrain and review of literature. JBCGenetics. 2020; 3(2): 108-112. doi:10.24911/JBCGenetics/183-1596702951


Vancouver/ICMJE Style

Alsahlawi Z, Alfayez FN, Hasan SM, Mohammed D, Aljishi E. Infantile systemic hyalinosis: report of a case from Bahrain and review of literature. JBCGenetics. (2020), [cited January 19, 2021]; 3(2): 108-112. doi:10.24911/JBCGenetics/183-1596702951


Harvard Style

Alsahlawi, Z., Alfayez, . F. N., Hasan, . S. M., Mohammed, . D. & Aljishi, . E. (2020) Infantile systemic hyalinosis: report of a case from Bahrain and review of literature. JBCGenetics, 3 (2), 108-112. doi:10.24911/JBCGenetics/183-1596702951


Turabian Style

Alsahlawi, Zahra, Fatema Naser Alfayez, Sayed Mohamed Hasan, Deena Mohammed, and Emtethal Aljishi. 2020. Infantile systemic hyalinosis: report of a case from Bahrain and review of literature. Journal of Biochemical and Clinical Genetics, 3 (2), 108-112. doi:10.24911/JBCGenetics/183-1596702951


Chicago Style

Alsahlawi, Zahra, Fatema Naser Alfayez, Sayed Mohamed Hasan, Deena Mohammed, and Emtethal Aljishi. "Infantile systemic hyalinosis: report of a case from Bahrain and review of literature." Journal of Biochemical and Clinical Genetics 3 (2020), 108-112. doi:10.24911/JBCGenetics/183-1596702951


MLA (The Modern Language Association) Style

Alsahlawi, Zahra, Fatema Naser Alfayez, Sayed Mohamed Hasan, Deena Mohammed, and Emtethal Aljishi. "Infantile systemic hyalinosis: report of a case from Bahrain and review of literature." Journal of Biochemical and Clinical Genetics 3.2 (2020), 108-112. Print. doi:10.24911/JBCGenetics/183-1596702951


APA (American Psychological Association) Style

Alsahlawi, Z., Alfayez, . F. N., Hasan, . S. M., Mohammed, . D. & Aljishi, . E. (2020) Infantile systemic hyalinosis: report of a case from Bahrain and review of literature. Journal of Biochemical and Clinical Genetics, 3 (2), 108-112. doi:10.24911/JBCGenetics/183-1596702951


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