Infantile systemic hyalinosis in identical twins

Koonuru, Mahesh Kumar; Venugopal, Satya Prasad

doi:10.5582/irdr.2015.01027

Cited by 10 publications

(6 citation statements)

References 14 publications

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“…Genetic counseling and prenatal diagnosis should be valued as there is a 25% chance of inheritance of the disease. DNA analysis at around 12–16 weeks of gestation can identify pathogenic mutations in patients with HFS 5 . In conclusion, this case of HFS, caused by ANTXR2, will be of great significance to the investigation of associated mechanisms and the understanding of the correlation between genotype and phenotype.…”

Section: Figurementioning

confidence: 89%

Two novel compound heterozygous anthrax toxin receptor 2 mutations in a Chinese patient with hyaline fibromatosis syndrome

Lin

Liu

2020

Int J Dermatology

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Section: Figurementioning

confidence: 89%

Two novel compound heterozygous anthrax toxin receptor 2 mutations in a Chinese patient with hyaline fibromatosis syndrome

Lin

Liu

2020

Int J Dermatology

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“…Most genetic studies identified a mutation in the capillary morphogenesis factor-2 gene (CMG2), also known as ANTXR2 gene (Anthrax Toxin Receptor 2) located on chromosome 4q21. This gene codes for a transmembrane cell receptor that participates in strengthening and supporting connective tissue by reacting with the extracellular matrix [ 5 , 15 , 16 ]. This mutation translates into the allelic disorders JHF and ISH [ 1 , 2 , 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…It has been suggested that increased synthesis of glycosaminoglycans by fibroblasts might be the cause. Another possible culprit is the increase in type VI and III collagen, along with increased degradation of type I collagen, which can explain the clinical features of inflexible skin and the limitation of joint movement [ 3 , 5 , 7 , 8 , 16 ].…”

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 (ISH) is a very rare, systemic disorder that is inherited in an autosomal recessive fashion. It is characterized by the widespread deposition of hyaline material, similar to collagen type VI, in multiple organs [ 1 , 2 ]. Affected tissues and organs can include the dermis, skeletal and cardiac muscle, thyroid, spleen, gastrointestinal tract, and adrenal glands.…”

Section: Introductionmentioning

confidence: 99%

A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity

Baroud¹,

Alawadhi²

2021

Cureus

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Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive disorder characterized by widespread abnormal growth of hyalinized fibrous tissue in skin and mucosae. The typical clinical picture consists of the development of joint contractures, skin lesions, and severe, chronic pain. We report the case of a 2-year-old Pakistani girl, who presented to our clinic with papulonodular lesions, gingival hyperplasia, hypotonia, and joint contractures. Skin biopsy revealed hyaline deposits, and genetic testing revealed a mutation in the protein Anthrax toxin receptor 2 (ANTXR2).

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Infantile systemic hyalinosis in identical twins

Cited by 10 publications

References 14 publications

Two novel compound heterozygous anthrax toxin receptor 2 mutations in a Chinese patient with hyaline fibromatosis syndrome

Two novel compound heterozygous anthrax toxin receptor 2 mutations in a Chinese patient with hyaline fibromatosis syndrome

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

A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity

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