Intestinal injury and repair: insights from hyaline fibromatosis syndrome [PDF]
EMBO Molecular MedicinePolarized columnar epithelial cells form a delicate yet highly effective, single-cell-thick barrier that lines the intestine and other mucosal surfaces. Their function is to separate and actively affect vastly different physiological compartments—forming
Wayne I Lencer
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Early Recognition of Infantile Systemic Hyalinosis in a Palestinian Infant: A Case Report [PDF]
Clinical Case ReportsInfantile systemic hyalinosis should be suspected in infants with contractures, skin changes, and diarrhea in consanguineous families. Early recognition allows timely genetic testing, supportive care, and counseling, improving family outcomes despite ...
Lilyan Jarrar +6 more
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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome [PDF]
Orphanet Journal of Rare Diseases, 2019 Background Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. It manifests as multiple skin nodules, patchy hyperpigmentation, joint contractures and
Claudia Cozma +15 more
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The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series [PDF]
BMC Medical Genetics, 2018 Background Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the
Leila Youssefian +7 more
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Hyaline Fibromatosis Syndrome Presenting with Nasal Mass: A Case Report
Ear, Nose and Throat Journal, 2022 Hyaline fibromatosis syndrome (HFS) is a rare, autosomally-recesfvsive disease characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival overgrowth, and osteolytic bone lesions.
Feras Alkholaiwi
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Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome
Indian Journal of Paediatric Dermatology, 2016 Juvenile hyaline fibromatosis or infantile systemic hyalinosis is a rare progressive, fatal autosomal recessive disorder characterized by widespread deposition of hyaline.
K Amrutha Varshini +6 more
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Decoding the Mystery of Multiple Swellings and Joint Contractures: Hyaline Fibromatosis Syndrome
Indian Journal of DermatologyChandrasekhar Varshini +4 more
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Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome
The Turkish Journal of PediatricsBackground. Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues.
Tuğba Daşar +6 more
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Juvenile Hyaline Fibromatosis or Hyaline Fibromatosis Syndrome?
Indian Journal of Pathology and Microbiology, 2012 Bhavana Bharambe
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Overlapping Hyaline Fibromatosis Syndrome: A Rare Case of Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis. [PDF]
Cureus, 2022 Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISF) are rare progressive, fatal autosomal recessive fibromatosis disorders that are characterized by the deposition of hyaline in various tissues. Mutations in capillary morphogenesis gene 2 are responsible for both of these conditions.
Oswal RM +4 more
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