LAUSR

Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review

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1 Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1993

Abstract: Hyaline fibromatosis syndrome is a rare autosomal recessive disorder with ANTXR2 mutations characterised by the accumulation of hyaline substances in tissues. We present a case with the severe form—infantile systemic hyalinosis (ISH)—with long survival and… read more here.

Keywords: fibromatosis syndrome; hyaline fibromatosis; case; antxr2 ... See more keywords

Hyaline Fibromatosis Syndrome

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0 Published in 2021 at "Indian Journal of Pediatrics"

DOI: 10.1007/s12098-021-03724-6

Abstract: To the Editor: Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive syndrome characterized by deposition of amorphous hyaline material in skin, subcutaneous tissue, and various other organs of the body resulting in papules and… read more here.

Keywords: hyaline fibromatosis; fibromatosis syndrome;

Hyaline fibromatosis syndrome: A rare case of multifocal intra-articular involvement.

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0 Published in 2020 at "Clinical imaging"

DOI: 10.1016/j.clinimag.2020.10.015

Abstract: Hyaline fibromatosis syndrome (HFS) is a rare, progressive, autosomal recessive disorder that presents with connective tissue deposition of amorphous hyaline material within the musculocutaneous tissue and/or visceral organs. HFS presents clinically in infancy or early… read more here.

Keywords: intra articular; case; case multifocal; multifocal intra ... See more keywords

Femur fracture in a paediatric patient with hereditary hyaline fibromatosis syndrome

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0 Published in 2022 at "BMJ Case Reports"

DOI: 10.1136/bcr-2021-248447

Abstract: An 18-month-old girl with hereditary hyaline fibromatosis syndrome (HHFS) and fixed flexion contractures presented with an oblique femur fracture, following a fall out of her mother’s arms. The fracture was abutting intramedullary hyaline lesions. Due… read more here.

Keywords: hyaline; hereditary hyaline; femur fracture; fracture ... See more keywords

Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report.

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1 Published in 2018 at "Molecular medicine reports"

DOI: 10.3892/mmr.2018.9421

Abstract: Hyaline fibromatosis syndrome (HFS; MIM 228600) is a rare autosomal recessive disorder characterized by the abnormal growth of hyalinized fibrous tissue at subcutaneous regions on the scalp, ears and neck. The disease is caused by… read more here.

Keywords: antxr2 gene; mutations antxr2; fibromatosis syndrome; hyaline fibromatosis ... See more keywords