Results 11 to 20 of about 317 (112)
Infantile systemic hyalinosis in identical twins [PDF]
Intractable and Rare Diseases Research, 2015 Infantile systemic hyalinosis (ISH) is a rare disorder belonging to the heterogeneous group of genetic fibromatoses. It is a rare, progressive, fatal autosomal recessive condition characterized by widespread deposition of hyaline material in many tissues caused by mutations in the anthrax toxin receptor 2 gene - ANTXR2.
Satya Prasad Venugopal
exaly +5 more sources
Infantile Systemic Hyalinosis: A Case Report with a Brief Review [PDF]
Indian Dermatology Online JournalPriyanka Sangwan +3 more
doaj +4 more sources
Infantile systemic hyalinosis: A clinical masquerader for clinicians
Indian Journal of Paediatric Dermatology, 2023 Infantile systemic hyalinosis (ISH) is an extremely rare disorder inherited in an autosomal recessive manner. The syndrome clinically presents with multiple joint contractures with chronic severe pain, papulonodular skin lesions, hypotonia, gingival ...
Charu Garg, Brijesh Parmar, Yogesh Patel
doaj +2 more sources
Indian Journal of Paediatric DermatologyInfantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder characterized by widespread hyaline deposition in various tissues, resulting in multi-organ dysfunction.
Sharwari Jaiswal +3 more
doaj +5 more sources
Orphan Disease: Infantile Systemic Hyalinosis
Zdorovʹe Rebenka, 2015 Infantile systemic hyalinosis — one of the forms of systemic hyaline fibromatosis — is a rare, fatal progressive disease with autosomal recessive inheritance, which is characterized by the accumulation of hyaline substance in different tissues of the ...
Ye.V. Ponochevnaia +6 more
doaj +2 more sources
Pediatrics and Neonatology, 2017 Infantile systemic hyalinosis (ISH) is a rare multisystem fatal autosomal recessive disorder that involves widespread deposition of hyaline on connective tissues and certain internal organs. The major manifestations include painful articular contractures,
Sarar Mohamed
exaly +3 more sources
Infantile Systemic Hyalinosis: A Case Report and Literature Review. [PDF]
Cureus, 2023 Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterozygous group of genetic fibromatosis. There is a diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle, lymph node, spleen, thyroid, and adrenal gland due to which it presents clinically with multiple subcutaneous skin nodules, gingival ...
Mohammed SE +4 more
europepmc +3 more sources
Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature [PDF]
Intractable and Rare Diseases Research, 2016 Hammoudah SA, El-Attar LM.
exaly +2 more sources
A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity. [PDF]
Cureus, 2021 Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive disorder characterized by widespread abnormal growth of hyalinized fibrous tissue in skin and mucosae. The typical clinical picture consists of the development of joint contractures, skin lesions, and severe, chronic pain. We report the case of a 2-year-old Pakistani girl, who presented
Baroud S, Alawadhi A.
europepmc +4 more sources
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 +20 more
wiley +1 more source