Results 31 to 40 of about 317 (112)
Identical Twins with Infantile Systemic Hyalinosis: Case study and review of literature. [PDF]
J Orthop Case Rep, 2016 Infantile Systemic Hyalinosis (ISH) is a rare and fatal genetic disorder with mutations in Capillary morphogenesis gene-2 CMG2 / Human anthrax toxin receptor gene-2 ANTXR2 resulting in spindle cell proliferation, altered collagen metabolism with extensive deposition of amorphous eosinophilic PAS positive hyaline material in the connective tissues of ...
Aggarwal ML +3 more
europepmc +3 more sources
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
doaj +1 more source
Hyaline fibromatoses syndrome: A rare entity
Indian Journal of Paediatric Dermatology, 2019 Hyaline fibromatoses syndrome is a rare autosomal recessive disorder with very few cases reported from India till date. It is characterized by the deposition of amorphous hyaline material in the skin, bones, and viscera.
Resham Vasani, Deepak Parikh
doaj +1 more source
Hyaline fibromatosis syndrome: A rare inherited disorder
Indian Journal of Dermatology, 2016 Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs.
Meeta Dipak Mantri +3 more
doaj +1 more source
Caso para diagnóstico Case for diagnosis
Anais Brasileiros de Dermatologia, 2009 Fibromatose hialina juvenil e hialinose sistêmica infantil são desordens autossômicas recessivas, raras da infância. À histologia, há depósito de material hialino na derme e subcutâneo. As características clínicas principais são: lesões pápulo-nodulares,
Flávia Vieira Brandão +3 more
doaj +1 more source
Contemporary Clinical Dentistry, 2018 Syndromes, especially if they occur early in the growth phase can be very debilitating and cause severe restriction of function. Juvenile hyaline fibromatosis is one such disorder.
Vikram Karande, Neelam Noel Andrade
doaj +1 more source
The Turkish Journal of Pediatrics, 2003 Infantile systemic hyalinosis is a rare, progressive, fatal condition with a presumably autosomal recessive mode of inheritance. It is characterized by widespread deposition of hyaline material in many tissues.
Benal Büyükgebiz +3 more
doaj
Infantile systemic hyalinosis: A case report
Indian Journal of Child Health, 2015 Infantile systemic hyalinosis (ISH) is a rare, progressive, autosomal recessive disorder characterized by connective tissue involvement as hyaline deposition in the skin, gastrointestinal tract, muscles, glands, and other organs. We report a child with this rare condition presenting with growth retardation, joint contractures, and intractable diarrhea.
Sanjay Kantharajapura Shivappa +3 more
openaire +2 more sources
Infantile systemic hyalinosis.
Indian pediatrics, 2012 Infantile systemic hyalinosis is a rare disorder characterized by widespread deposition of hyaline. They usually present with skin lesions, joint contractures, and intractable diarrhea. We report a 2 year 4 month old boy with growth retardation, typical facial appearance, gingival enlargement, generalized stiff skin, joint contractures, and ...
Prabhas Prasun, Giri +3 more
openaire +1 more source
Airway Management in a Patient with Infantile Systemic Hyalinosis
Journal of Anesthesia & Clinical Research, 2012 Infantile Systemic Hyalinosis (ISH) is a rare inherited disease that is found among some families in Arab region where consguinity is not uncommon. Patients with ISH have distinctive clinical features that label them as difficult intubations. This includes limited mouth opening, restricted neck movement, protrusion of the mandible, and gingival ...
Fatemah Qasem Ahmad +1 more
openaire +1 more source