Oral and Maxillofacial Surgery CasesStudy design: Case report. Objective: To present two cases of young children with Hyaline Fibromatosis Syndrome and their oral and maxillofacial manifestations.
Iman Malakuti +5 more
doaj +3 more sources
Multisystemic Manifestations of Hyaline Fibromatosis Syndrome: Implications for Diagnosis and Management. [PDF]
Cureus, 2023 Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder characterized by the deposition of hyaline material in the skin, soft tissues, and bones. In this report, we discuss a case of a six-month-old male with HFS who presented with faltering growth, chronic diarrhea, multiple joint contractures, joint stiffness, hyperpigmented skin ...
Albusta N, Isa HM, Al-Jowder HE.
europepmc +3 more sources
Dynamic S-acylation controls CMG2 maturation extracellular matrix regulation and anthrax toxin susceptibility in vivo [PDF]
Nature CommunicationsCMG2/ANTXR2 functions as a Collagen VI receptor required for extracellular matrix homeostasis and as the primary portal for anthrax toxin entry. Mutations in CMG2 cause Hyaline Fibromatosis Syndrome (HFS), a rare and often fatal genetic disorder ...
Laurence Abrami +8 more
doaj +2 more sources
Injury-induced intestinal stem cell renewal requires capillary morphogenesis gene 2 [PDF]
EMBO Molecular MedicinePatients with the rare genetic disorder Hyaline Fibromatosis Syndrome (HFS) often succumb before 18 months of age due to severe diarrhea. As HFS is caused by loss-of-function mutations in the gene encoding capillary morphogenesis gene 2 (CMG2), these ...
Lucie Bracq +7 more
doaj +2 more sources
Femur fracture in a paediatric patient with hereditary hyaline fibromatosis syndrome. [PDF]
BMJ Case Rep, 2022 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 to her condition, balanced traction was impossible to apply. The authors report effective treatment of
Morley HL, Shaw DL, Hannant G.
europepmc +3 more sources
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system†‡§ [PDF]
American Journal of Medical Genetics, Part A, 2012 Chong Ae Kim +2 more
exaly +2 more sources
Hyaline fibromatosis syndrome: New unifying term and surgical approach
Indian Journal of Pathology and Microbiology, 2012 Rafael Denadai +2 more
doaj +3 more sources
Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation
Indian Journal of Paediatric Dermatology, 2022 Infantile systemic hyalinosis (ISH; MIM #236490) and juvenile hyaline fibromatosis (MIM #228600) represent two spectrums of the rare autosomal recessive disorder, the hyaline fibromatosis syndrome caused by mutations in ANTXR2/CMG2 encoding capillary ...
Sandipan Dhar +4 more
doaj +1 more source
Clinicopathological Challenge: A Progressively Enlarging Hardened Skin Plaque. [PDF]
Int J DermatolABSTRACT Stiff skin syndrome (SSS) is a rare connective tissue disease manifesting as a progressive, non‐inflammatory fibrosis that causes the skin and soft tissues to harden. It can result in restricted joint movement, particularly affecting the shoulder and pelvic girdle. A segmental variant with a better prognosis has been described.
Fernández Martínez M +3 more
europepmc +2 more sources
Sarcoma care in the era of precision medicine
Journal of Internal Medicine, Volume 294, Issue 6, Page 690-707, December 2023., 2023 Abstract Sarcoma subtype classification is currently mainly based upon histopathological morphology. Molecular analyses have emerged as an efficient addition to the diagnostic workup and sarcoma care. Knowledge about the sarcoma genome increases, and genetic events that can either support a histopathological diagnosis or suggest a differential ...
Karin Wallander +6 more
wiley +1 more source