Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease with onset in infancy or early childhood. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, and flexion contractures of the large joints. The light and electron microscopic features are very distinctive. Here we report an 8-month-old boy with characteristic stiffness of the knees and elbows and pink confluent papules on the paranasal folds, and periauricular and perianal regions. He also had hard nodules all over the scalp and around the mouth, and severe gingival hypertrophy. Histologic and ultrastructural features were typical of JHF. Clinical features, pathology, and physiology are discussed.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1046/j.1525-1470.2001.01964.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Recurrent Giant Subcutaneous Tumor in Juvenile Hyaline Fibromatosis.
J Craniofac Surg
February 2025
Department of Pediatric Neurosurgery, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
This case report presents a 5-year-old boy diagnosed with juvenile hyaline fibromatosis (JHF), an extremely rare autosomal recessive disorder characterized by the abnormal accumulation of collagen. The patient exhibited a recurrent giant subcutaneous tumor measuring 20 cm in diameter, along with multiple tumors in the oral cavity, gingiva, and joints, leading to significant facial deformity and functional impairments. Previous surgeries at ages 1 and 2 for tumor removal resulted in recurrence.
View Article and Find Full Text PDFFirst Report of Cereal Cyst Nematode, , in wheat in Shaanxi, China.
Plant Dis
December 2024
Northwest A&F University, College of Plant Protection and State Key Laboratory of Crop Stress Biology for Arid Areas, Yangling, Shaanxi, China;
Cereal cyst nematodes spp., are important pathogens of wheat (Toumi et al. 2018).
View Article and Find Full Text PDFUnraveling Juvenile Hyaline Fibromatosis: A Case of Novel ANTXR2 Mutations Associated with Subcutaneous Masses and Hydronephrosis.
Pediatr Blood Cancer
March 2025
Department of Pathology, Children's Hospital of Fudan University, Shanghai, China.
First Report of the cyst nematode parasitizing bamboo () in Georgia, USA.
Plant Dis
November 2024
University of Georgia, Plant Pathology, 2350 College Station Road, Athens, Georgia, United States, 30602;
Article Synopsis
- Soil and root samples were taken from bamboo plots in Georgia over three years to monitor plant-parasitic nematodes; discoloration and stunted growth were observed in roots despite no visible symptoms aboveground.
- Cyst nematodes (Heterodera spp.) were detected with varying population densities across the years, confirming their presence through the transplantation of healthy bamboo into infested soil, which resulted in young cysts forming in the roots after three months.
- Detailed morphological and molecular analyses identified the nematode species, providing specific measurements and descriptions of the second-stage juveniles and cysts, indicating their characteristics such as body shape, size, and coloration.
Differentiated and Untreated Juvenile Chondrocyte Sheets Regenerate Cartilage Similarly .
Tissue Eng Part A
February 2025
Department of Molecular Pharmaceutics, Health Sciences, Cell Sheet Tissue Engineering Center (CSTEC), University of Utah, Salt Lake City, Utah, USA.
Osteoarthritis, a degenerative disease of articular cartilage and the leading cause of disability, is preceded by acute cartilage injury in a significant proportion of cases. Current auto- and allograft interventions are limited by supply and variability in therapeutic efficacy, prompting interest in tissue engineering solutions. Cell sheet tissue engineering, a scaffold-free regenerative technique, has shown promise in preclinical and clinical trials across various cell types and diseases.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!