Results 31 to 40 of about 273,607 (146)

Patient's consent obtained to publish clinical information and images. [PDF]

Indian J Med Res, 2020
Tripathy S, Rautaray B.
europepmc   +2 more sources

Juvenile Hyaline Fibromatosis [PDF]

Mayo Clinic Proceedings, 2020
Juvenile hyaline fibromatosis is a hereditary disease characterized by the formation of tumor-like benign lesions (classified among fibroblastic-myofibroblastic tumors). The condition is also known as molluscum fibrosum, mesenchymal dysplasia, and hyaline fibromatosis syndrome.
Andrew L, Folpe, Michael, Schoen, Steve, Kang   +2 more
  +9 more sources

Juvenile Hyaline Fibromatosis: Literature Review and a Case Treated With Surgical Excision and Corticosteroid. [PDF]

Cureus, 2020
Juvenile hyaline fibromatosis (JHF) is an extremely rare autosomal recessive disease with less than a hundred cases reported worldwide and is more prevalent in the middle east due to higher rates of interfamilial marriages.
Braizat O, Badran S, Hammouda A.
europepmc   +2 more sources

Juvenile hyaline fibromatosis: a case report and literatures review

口腔疾病防治, 2022
Objective To investigate the clinicopathological characteristics, imaging manifestations, genetic manifestations, diagnosis and treatment of juvenile hyaline fibromatosis.
XIA Liang, WU Dandan, CHEN Yang
doaj   +1 more source

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, Ingegerd Öfverholm, Kjetil Boye, Panagiotis Tsagkozis, Andri Papakonstantinou, Yingbo Lin, Felix Haglund de Flon   +6 more
wiley   +1 more source

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

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, Rashmi Agarwal, Sahana M Srinivas, Subhra Dhar, Apurba Ghosh   +4 more
doaj   +1 more source

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. [PDF]

Am J Hum Genet, 2002
Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition characterized by multiple subcutaneous nodular tumors, gingival fibromatosis, flexion contractures of the joints, and an accumulation of hyaline in the dermis.
Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM.   +17 more
europepmc   +2 more sources

Juvenile Hyaline Fibromatosis Management With a Diode Laser: A Rare Case Report. [PDF]

J Lasers Med Sci, 2020
Juvenile hyaline fibromatosis (JHF) is an unknown hereditary disorder with variable penetrance. The characterizations of this disease consist of different signs and symptoms such as multiple tumorous (tumor-like) muco-cutaneous proliferation, gingival ...
Fekrazad R, Fazilat F, Kalhori KA, Hakimiha N, Amirmoini M, Nikhalat Jahromi M.   +5 more
europepmc   +2 more sources

Juvenile hyaline fibromatosis: an unusual clinical presentation [PDF]

, 2019
Juvenile hyaline fibromatosis is a recessive autosomal hereditary disorder characterized by abnormal growth of hyalinized fibrous tissue. Its clinical presentation is marked by tumors of the skin, bone lesions, joint contractures, and gingival ...
Razo, Leonardo Monte, Estrella, Rogerio Ribeiro, Pantaleão, Luciana, Lyra, Ana Luiza Costa de Oliveira   +3 more
core   +1 more source