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Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations
Human Mutation, 2018Hyaline fibromatosis syndrome (HFS) is the unifying term for infantile systemic hyalinosis and juvenile hyaline fibromatosis. HFS is a rare autosomal recessive disorder of the connective tissue caused by mutations in the gene for anthrax toxin receptor-2 (ANTXR2).
Dídac Casas-Alba +2 more
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Hyaline fibromatosis syndrome: A case report
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2020Hyaline fibromatosis syndrome (HFS) is a rare monogenic disease inherited in an autosomal recessive pattern and characterized by hyaline deposits on the skin, mucosa, and multiple organs; osteoporosis; and joint contractures. This progressive condition is caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2).
Thaís dos Santos Fontes Pereira +8 more
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Hyaline fibromatosis syndrome: A rare case of multifocal intra-articular involvement
Clinical Imaging, 2021Hyaline 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 childhood and can result in severe disability and life threatening complications ...
Robert DeVita +2 more
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Skeletal Radiology, 2017
Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis) is a rare, progressive, autosomal recessive disorder whose main hallmark is the deposition of amorphous hyaline material in soft tissues, with an evolutionary course and health impairment. It may present involvement of subcutaneous or periskeletal soft tissue, or may develop as a visceral ...
Dario Picone +2 more
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Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis) is a rare, progressive, autosomal recessive disorder whose main hallmark is the deposition of amorphous hyaline material in soft tissues, with an evolutionary course and health impairment. It may present involvement of subcutaneous or periskeletal soft tissue, or may develop as a visceral ...
Dario Picone +2 more
exaly +4 more sources
Rare case of hyaline fibromatosis syndrome
BMJ Case ReportsHyaline fibromatosis syndrome is a rare, progressive and fatal autosomal recessive disorder characterised by multiple subcutaneous skin nodules, osteopenia, joint contractures, failure to thrive, diarrhoea and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands.
Ashok Kumar Gupta +3 more
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Hyaline Fibromatosis Syndrome Presenting as Abuse
Child Abuse ReviewABSTRACTHyaline fibromatosis syndrome (or HFS, subcategorized as infantile systemic hyalinosis and juvenile hyaline fibromatosis) has presenting clinical features that may overlap with findings typically identified in cases concerning for nonaccidental trauma. For example, hyperpigmentation over bony prominences (an early presenting finding seen in the
Mark Adrian Hilado +2 more
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Cytopathology, 2023
Cytological diagnosis of hyaline fibromatosis syndrome can be challenging. The main features on cytology are the presence of abundant acellular, bright pink‐purple matrix within which groups of bland spindle cells are embedded. Cytological features of a case of hyaline fibromatosis syndrome is described here along with the cytological differentials.
Md Mohin +4 more
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Cytological diagnosis of hyaline fibromatosis syndrome can be challenging. The main features on cytology are the presence of abundant acellular, bright pink‐purple matrix within which groups of bland spindle cells are embedded. Cytological features of a case of hyaline fibromatosis syndrome is described here along with the cytological differentials.
Md Mohin +4 more
openaire +2 more sources
Hyaline Fibromatosis Syndrome Diagnosed by Whole Genome Sequencing
Journal of Pediatric Health CareHyaline fibromatosis syndrome is an extremely rare autosomal recessive condition caused by biallelic pathogenic variants in the ANTXR2 gene that leads to abnormal growth of hyalinized fibrous tissue. Severity ranges from life-threatening intractable diarrhea, recurrent infection, and acute pain to milder disease resulting in skin lesions and less ...
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Prognostic factors for wellbeing in patients with hyaline fibromatosis syndrome
Pediatrics InternationalAbstract Background Hyaline fibromatosis syndrome (HFS) is a congenital disorder characterized by subcutaneous skin nodules, congenital multiple arthrogryposis, gingival hyperplasia, and chronic pain. The intellectual ability of patients with HFS is generally normal. This
Hiroshi Futagawa +10 more
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Molecular Mechanisms Underlying Hyaline Fibromatosis Syndrome
2011Hyaline Fibromatosis Syndrome (HFS) is a rare inherited disease that is characterized by an accumulation of an unidentified hyaline material, largely affecting connective tissues. Patients afflicted with HFS present a wide range of clinical symptoms such as nodules, papules, hyperplasia of the gingiva, joint contractions, thickness and ...
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