Infantile systemic hyalinosis: a case with atypical prolonged survival

Thauvin‐Robinet, Christel; Faivre, Laurence; Beer, F; Justrabo, E; Nivelon-Chevallier, A; Huet, Frédéric

doi:10.1111/j.1651-2227.2001.tb02439.x

Cited by 8 publications

(4 citation statements)

References 8 publications

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“…Dhingra et al [40] have reported a 3-year-old girl who presented with recurrent episodes of diarrhea and was diagnosed as having a case of JHF. ISH patients with atypical prolonged survival have also been reported [41]. Kawasaki et al [42] have reported an elderly woman with JHF who died from aspiration pneumonia.…”

Section: Discussionmentioning

confidence: 99%

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

et al. 2017

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BackgroundHyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These two variants are secondary to mutations in the anthrax toxin receptor 2 gene (ANTXR2) located on chromosome 4q21. The main clinical features of both entities include papular and/or nodular skin lesions, gingival hyperplasia, joint contractures and osteolytic bone lesions that appear in the first few years of life, and the syndrome typically progresses with the appearance of new lesions.MethodsWe describe five Lebanese patients from one family, aged between 28 and 58 years, and presenting with nodular and papular skin lesions, gingival hyperplasia, joint contractures and bone lesions. Because of the particular clinical features and the absence of a clinical diagnosis, Whole Genome Sequencing (WGS) was carried out on DNA samples from the proband and his parents.ResultsA mutation in ANTXR2 (p. Gly116Val) that yielded a diagnosis of HFS was noted.ConclusionsThe main goal of this paper is to add to the knowledge related to the clinical and radiographic aspects of HFS in adulthood and to show the importance of Next-Generation Sequencing (NGS) techniques in resolving such puzzling cases.

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Section: Discussionmentioning

confidence: 99%

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

et al. 2017

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“…9,15,25 Although these patients had clinical features consistent with ISH, their clinical course was more consistent with JHF. Similarly, a patient presenting with classical signs of JHF who subsequently developed visceral involvement has recently been described.…”

Section: Discussionmentioning

confidence: 96%

“…1,9,11,12,17,23,24 Although ISH is panethnic, it is noted that many cases reported have been of MiddleEastern origin. 1,2,12,15,25 While some of the presumed increased incidence among this population may be attributed to a higher rate of consanguineous relationships, Al-Mayouf et al 2 have suggested a higher underlying carrier frequency in this population. Rates of consanguinity among parents of children with ISH in 19 cases were similar to rates of consanguinity in the population of Saudi Arabia.…”

Section: Discussionmentioning

confidence: 98%

Infantile systemic hyalinosis: Case report and review of the literature

Lindvall

Kormeili

Chen

et al. 2008

Journal of the American Academy of Dermatology

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“…Intractable infantile diarrhoea was the presenting feature. [ 27 ] Stucki et al . reported a further case and histological investigations suggested that the amorphous material accumulating in the skin and articular soft tissues may originate from the blood circulation.…”

Section: Discussionmentioning

confidence: 99%

Infantile Systemic Hyalinosis

Kaissi

Hilmi

Betadolova³

et al. 2021

African Journal of Paediatric Surgery

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Background: Infantile systemic hyalinosis (ISH) is an autosomal recessively inherited disorder. The classical natural history of the disease is characterised by hypotonia, multiple contractures, skin lesions, osteopenia, joint pain, bone fractures, persistent diarrhoea and growth deficiency. Materials and Methods: Two children manifested the severe type of ISH underwent genotypic confirmation. In order to identify which other family members have inherited the disease. We included siblings and cousins in this study. The baseline tool to study other family subjects was based on the phenotypic characterisations of each child. Results: Two children with the severe type of ISH showed craniosynostosis (brachycephaly and scaphocephaly) associated with multiple contractures, progressive joint osteolysis ending up with multiple joint dislocations. The full exome sequencing was carried out, revealing a previously reported heterozygous nonsense mutation с.1294С>Т and a novel heterozygous non-synonymous substitution c. 58T>A in ANTRX2 gene. Three children (sibling and cousins) manifested variable clinical manifestations relevant to ISH. Specifically, asymptoamtic skin and skeletal abnormalities of hypoplastic clavicles and 'shepherd's crook' deformity and coxa vara. Conclusion: It is mandatory to perform extensive family pedigree search to detect asymptomatic clinical features in siblings and cousins in families with first degree related marriages. Interestingly, in the mild and the moderate types of ISH, we observed undescribed combination of asymptomatic skin and skeletal abnormalities. This is a comparative study between the severe and the mild/moderate types in a group of children from consanguineous families. Our current study extends the phenotypic characterisations of ISH.

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Infantile systemic hyalinosis: a case with atypical prolonged survival

Cited by 8 publications

References 8 publications

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

Infantile systemic hyalinosis: Case report and review of the literature

Infantile Systemic Hyalinosis

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