Results 21 to 30 of about 317 (112)

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

Hyaline fibromatosis syndrome: cutaneous manifestations [PDF]

Anais Brasileiros de Dermatologia, 2016
Hyaline fibromatosis syndrome is the current name for clinical manifestations of diseases previously known as “infantile systemic hyalinosis” and “juvenile hyaline fibromatosis”.
Silvio Alencar Marques, Hamilton Ometto Stolf, Juliana Ocanha Polizel, Tânia Munhoz, Marcela Calixto Brandão, Mariangela Esther Alencar Marques   +5 more
doaj   +1 more source

Infantile Systemic Hyalinosis: A Familiar Symptom Unveiling an Unusual Disease. [PDF]

Cureus
Infantile systemic hyalinosis is a rare autosomal recessive disorder characterized by the widespread deposition of hyaline material in multiple organs leading to progressive multisystem involvement. Early clinical manifestations are often nonspecific and frequently result in diagnostic delay.
Nayek S, Sandhu A, Kumar A, Malik S.
europepmc   +3 more sources

A novel splice site mutation in anthrax toxin receptor 2 (Capillary morphogenesis protein 2) gene results in systemic hyalinosis

Indian Journal of Paediatric Dermatology, 2022
Infantile Systemic Hyalinosis, now included under the unifying term, “hyaline fibromatosis syndrome” (HFS) is a rare, progressive and fatal autosomal recessive disorder characterized by various dermatological manifestations such as thickened skin ...
Indhra Priyadharshini, Sirisha Varala, Tallapaka Karthik Bharadwaj, Ananthula Venkata Krishna   +3 more
doaj   +1 more source

Infantile systemic hyalinosis diagnosed as arthrogryposis multiplex congenita – A case report and literature review

Journal of Dermatology and Dermatologic Surgery, 2023
Infantile systemic hyalinosis (ISH) is a rare fatal autosomal recessive disorder characterized by hyaline deposition in the skin and internal organs. Children with ISH usually present to orthopedicians due to decreased and painful limb movements with ...
Kritika Gupta, Hania Q Khan, Syed S Amin, Mithilesh Chandra   +3 more
doaj   +1 more source

Effect of Paediatric Rehabilitation in Infantile Systemic Hyalinosis: A Case Report. [PDF]

Cureus
Infantile systemic hyalinosis (ISH) is a very rare autosomal recessive disorder, which is characterized by a systemic build-up of hyaline material that causes extensive tissue destruction and functional impairment. The signs of this debilitating illness, which can involve organs, skin anomalies, and joint contractures, frequently appear in infancy. The
Seth NH, Sharath HV, Raghuveer R, Qureshi MI.   +3 more
europepmc   +3 more sources

Infantile systemic hyalinosis: report of a case from Bahrain and review of literature

Journal of Biochemical and Clinical Genetics, 2020
Background: Infantile systemic hyalinosis (ISH), an allelic form of hyaline fibromatosis syndrome, is a rare fatal autosomal recessive disorder that is caused by mutations in the CMG2/ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2.
Zahra Alsahlawi, Fatema Naser Alfayez, Sayed Mohamed Hasan, Deena Mohammed, Emtethal Aljishi   +4 more
doaj   +1 more source

Case‐Control Study and Meta‐Analysis Show a Weak Association between ANTXR2 Polymorphisms and Ankylosing Spondylitis in Chinese Han

BioMed Research International, Volume 2018, Issue 1, 2018., 2018
Previous studies have demonstrated associations of ANTXR2 gene polymorphisms with ankylosing spondylitis (AS). These associations differ depending on the ethnic populations and AS subgroups studied. Purposes of the current study were to evaluate the associations of 4 single nucleotide polymorphisms (SNPs) of the ANTXR2 gene with susceptibility to AS ...
Jiayue Hu, Liping Du, Wencheng Su, Shengyun Liu, Jing Deng, Qinfeng Cao, Gangxiang Yuan, Aize Kijlstra, Peizeng Yang, Tobias De Zordo   +9 more
wiley   +1 more source

The Effect of Phototherapy on Cancer Predisposition Genes of Diabetic and Normal Human Skin Fibroblasts

BioMed Research International, Volume 2017, Issue 1, 2017., 2017
The purpose of this study was to investigate whether LED light at different wavelengths affects the expression profile of 143 cancer predisposition genes in both diabetic and normal human fibroblasts. In this study, both diabetic and normal fibroblast cell lines were cultured and irradiated with red (635 nm), green (520 nm), and blue (465 nm) LED light
Pongsathorn Chotikasemsri, Boonsin Tangtrakulwanich, Surasak Sangkhathat, Tokuya Omi   +3 more
wiley   +1 more source

Multispeciality Approach in the Management of Patient with Hereditary Gingival Fibromatosis: 1‐Year Followup: A Case Report

International Journal of Dentistry, Volume 2010, Issue 1, 2010., 2010
Background. Hereditary gingival fibromatosis is a fibrotic enlargement of the gingiva. It may exist as an isolated abnormality or as part of multisystem syndrome. This paper reports a case of 16‐year‐old male with generalized severe gingival overgrowth, involving the maxillary and mandibular arches and covering almost all teeth. Methods.
T. Ramakrishnan, Manmeet Kaur, Dimitris N. Tatakis   +2 more
wiley   +1 more source