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Effect of Paediatric Rehabilitation in Infantile Systemic Hyalinosis: A Case Report.
Cureus
June 2024
Neurophysiotherapy, Ravi Nair Physiotherapy College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
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 paucity of available research on ISH emphasizes the need for all-encompassing management approaches to address the wide range of symptoms and enhance the overall quality of life for impacted babies.
View Article and Find Full Text PDFHyaline Fibromatosis Syndrome: Early Outcomes Following Major Craniofacial Mass Excision.
J Craniofac Surg
July 2024
Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Hyaline fibromatosis syndrome (HFS) is a rare congenital disorder characterized by abnormal hyaline deposition within soft tissues. Hyaline fibromatosis syndrome manifests in 2 distinct forms: (1) infantile systemic hyalinosis and (2) juvenile hyaline fibromatosis. Infantile systemic hyalinosis, the more severe form, typically emerges in early childhood with extensive systemic involvement.
View Article and Find Full Text PDFBeyond Skin Deep: A Case Report of Infantile Systemic Hyalinosis in a Six-Month-Old Infant.
Cureus
May 2024
Pathology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
A rare autosomal recessive condition called infantile systemic hyalinosis (ISH) is characterized by early-onset skin lesions that progress to the formation of numerous contractures. The underlying disease is the progressive accumulation of hyaline substances in many tissues. We are presenting the case of a male infant who was referred for evaluation and management at the age of six months.
View Article and Find Full Text PDFHyaline fibromatosis syndrome: a rare, yet recognizable syndrome.
Turk J Pediatr
May 2024
Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Background: Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness, hyperpigmented papules over extensor surfaces of joints, fleshy perianal masses, severe diarrhea, and gingival hypertrophy.
View Article and Find Full Text PDFIatrogenic Kaposi's Sarcoma: A Unique Case Unraveling Gastrointestinal Manifestations and Therapeutic Implications.
Cureus
March 2024
Dermatology, Faculty of Medicine, Mohammed VI University of Health Sciences (UM6SS), Casablanca, MAR.
Kaposi's sarcoma (KS), linked to human herpesvirus 8 (HHV8), manifests in various clinical forms with iatrogenic KS uniquely tied to immune dysregulation induced by medical interventions. This study describes a 58-year-old male of sub-Saharan origin with a medical history of segmental and focal hyalinosis treated with methylprednisolone and mycophenolate mofetil. The patient developed skin lesions on both thighs, accompanied by post-prandial vomiting and abdominal pain.
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