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

Zahra Alsahlawi; Fatema Naser Alfayez; Sayed Mohamed Hasan; Deena Mohammed; Emtethal Aljishi

doi:10.24911/JBCGenetics/183-1596702951

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Case Report
Online Published: 28 Sep 2020

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

doi: 10.24911/JBCGenetics/183-1596702951

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

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

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.

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

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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: November 14, 2024]. 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 November 14, 2024]; 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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