Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature

Hammoudah, Sahar Ahmed Fathi; El-Attar, Lama M.

doi:10.5582/irdr.2016.01003

Cited by 12 publications

(7 citation statements)

References 23 publications

(26 reference statements)

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“…In ISH disruptions to bone and internal organs are seen and often lead to death in childhood, whereas the course of JHF is often much more benign and tends to involve primarily skin and joints [ 12 , 13 ]. The mutation is inherited in an autosomal recessive fashion and has been reported somewhat more frequently from areas of the world in which consanguineous parentage is more common (Middle East, North Africa) than in the West [ 15 , 16 ].…”

Section: Discussionmentioning

confidence: 99%

“…The anesthetic implications of HFS are primarily related to patient positioning and airway management. The presence of flexion contractures and large cutaneous lesions may complicate patient positioning for intravenous line placement, anesthesia induction, regional anesthesia procedures, or the surgery itself [ 3 , 4 , 10 , 13 , 16 , 18 ]. Our patient did not manifest any such limitations, illustrating the variable presentation of the disease.…”

Section: Discussionmentioning

confidence: 99%

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Anesthetic Management of a Patient With Juvenile Hyaline Fibromatosis: A Case Report Written With the Assistance of the Large Language Model ChatGPT

Segal¹,

Khanna²

2023

Cureus

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This case report was written with the assistance of the large language model known as ChatGPT, a form of generative artificial intelligence that can write grammatically correct and semantically meaningful prose on a multitude of topics. Here, it has assisted us in presenting a case of anesthetic management for a case of Juvenile Hyaline Fibromatosis (JHF), an extremely rare genetic disorder that is part of a spectrum of diseases presently characterized as Hyaline Fibromatosis Syndrome (HFS), which also includes a more severe variant presenting in infancy. HFS is caused by autosomal recessive mutations in the ANTXR2 (anthrax toxin receptor cell adhesion molecule 2) gene, which binds collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Defects in this molecule lead to abnormal deposition of hyaline material in perivascular areas, presenting as cutaneous lesions, joint contractures, and in some cases internal organ dysfunction. Anesthetic management of patients with JHF may present difficulties with patient positioning and airway management. Most reports of anesthetic management concern children with severe disease and adult reports are uncommon. We present a case of JHF in a 39-year-old woman managed for resection of a lower extremity cutaneous lesion. The anesthetic management of this relatively minor case was uneventful, but the process of drafting this report with the assistance of the new software tool ChatGPT was informative of both its strengths and limitations.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Anesthetic Management of a Patient With Juvenile Hyaline Fibromatosis: A Case Report Written With the Assistance of the Large Language Model ChatGPT

Segal¹,

Khanna²

2023

Cureus

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“…All children were malnourished, mostly attributed to feeding problems, perioral stiffness, difficult mastication, and protein-losing enteropathy due to thickening and hyaline infiltration of the intestinal walls. 12 Gilaberte et al 13 proposed two major and three minor criteria for JHF which is allelic to ISH. The major criteria were cutaneous lesions (including nodules and/or tumor and/or plaques) and gingival enlargement.…”

Section: Discussionmentioning

confidence: 99%

“…Differential diagnosis includes lysosomal storage disorders, Farber disease, Winchester syndrome, mucopolysaccharidosis, ligneous periodontitis, and congenital generalized myofibromatosis. 11,12 Our study was limited due to the lack of genetic testing in four children, however, the genetic testing in these probands will facilitate prenatal diagnostic testing in subsequent pregnancies.…”

Section: Discussionmentioning

confidence: 99%

Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases

et al. 2021

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Infantile systemic hyalinosis is a very rare fatal autosomal recessive genetic disorder with a mutation in capillary morphogenesis gene-2-CMG2/Human anthrax toxin-2 ANTXR2 resulting in spindle cell proliferation, altered collagen metabolism along with extensive deposition of hyaline material in the skin and several tissues. To date only a few cases have been reported in the literature, hence we reported this series. This study is a retrospective chart review of infants diagnosed with infantile systemic hyalinosis from January 2015 through December 2020 at a tertiary care children's hospital in South India. The mean age of presentation was 9.4 months, with a male to female ratio of 1:5. All children were born of consanguineous marriage except one child. All children had symptoms at birth, painful limb movements, multiple joint stiffness, gingival thickening, skin lesions around perianal, perioral areas, and frog-like position. Three (50%) children had stiff skin. Routine tests including complete blood count, liver function test, renal function test, creatine phosphokinase, nerve conduction studies, and metabolic tests were normal in all children. Skin biopsy showed hyalinized collagenous tissue in the dermis. Genetic study results of two cases revealed pathogenic variants in ANTXR2 gene. Infantile systemic hyalinosis should be considered in infants presenting with painful limb movements. The diagnosis helped in avoiding unnecessary investigations and prognostications. The genetic information from proband mutation helped in prenatal diagnosis in two families.

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“…Dowling et al suggested that missense, truncating, and frameshift mutations, affecting the extracellular von Willebrand A (vWA) domain, are associated with infantile systemic hyalinosis (ISH), whereas in-frame and missense mutations are associated with the phenotypically milder JHF [ 10 ]. HFS has a high prevalence among middle east and north African populations, areas where intrafamilial marriage and parent consanguinity is a common finding [ 5 , 14 ].…”

Section: Discussionmentioning

confidence: 99%

Juvenile Hyaline Fibromatosis: Literature Review and a Case Treated With Surgical Excision and Corticosteroid

Braizat¹,

Badran²,

Hammouda³

2020

Cureus

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Juvenile hyaline fibromatosis (JHF) is an extremely rare autosomal recessive disease with less than a hundred cases reported worldwide and is more prevalent in the middle east due to higher rates of interfamilial marriages. Manifestations can be debilitating, and patients typically present with decreased joint mobility, gingival hypertrophy, nodular skin lesions, papulonodular skin lesions and osteolytic bone disease. JHF is a relatively mild presentation of the hyaline fibromatosis syndrome (HFS) family of diseases, with Infantile hyaline fibromatosis (IHF) being the more lethal form. A mutation of the (CMG2) gene on chromosome 4q21 is hypothesized to result in the abnormal deposition of amorphous hyaline substance in different body tissues. There are few studies that evaluated the role of surgery, corticosteroid therapy and physiotherapy or a combination of these modalities in providing symptomatic relief. In our paper, we present a literature review and case presentation for 28-year-old women with JHF, treated with surgical excision and corticosteroid therapy. Early surgical treatment provided instantaneous and more sustainable results, while corticosteroids can be used as alternative modalities with temporary outcomes.

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Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature

Cited by 12 publications

References 23 publications

Anesthetic Management of a Patient With Juvenile Hyaline Fibromatosis: A Case Report Written With the Assistance of the Large Language Model ChatGPT

Anesthetic Management of a Patient With Juvenile Hyaline Fibromatosis: A Case Report Written With the Assistance of the Large Language Model ChatGPT

Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases

Juvenile Hyaline Fibromatosis: Literature Review and a Case Treated With Surgical Excision and Corticosteroid

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