Overview
Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disorder characterized by abnormal proliferation of hyalinized fibrous tissue affecting the skin, mucosa, bones, joints, and internal organs, caused by mutations in the ANTXR2 gene 1.Diagnosis
Clinical Features: Extreme pain at minimal handling, gingival hypertrophy, subcutaneous nodules, joint stiffness, contractures, and systemic involvement 1.
Histopathology: Presence of hyaline material in tissues 12.
Genetic Testing: Identification of mutations in ANTXR2 gene 1.
Grading System: Grade 4 indicates life-limiting disease with median survival of 15.0 months (9.5-24.0 months) 1.Management
Supportive Care: Pain management, physical therapy for joint mobility 1.
Symptomatic Treatment: Addressing specific manifestations such as gingival hypertrophy and infections 1.
No Specific Dosing Mentioned: No specific drug classes or doses are detailed in the provided abstracts 1.Special Populations
Pediatrics: Most prevalent in infants and children, with severe systemic involvement impacting early life 12.
Comorbidities: Recurrent infections, organ failure, and intractable diarrhea are significant comorbidities 1.Key Recommendations
Genetic Testing for ANTXR2 Mutations: Essential for confirming diagnosis and understanding prognosis (Evidence: Strong 1).
Early Supportive Care: Focus on pain management and physical therapy to mitigate joint stiffness and contractures (Evidence: Moderate 1).
Monitor for Systemic Involvement: Regular assessment for signs of organ failure and recurrent infections to guide timely interventions (Evidence: Expert opinion 1).References
1 Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S et al.. Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations. Human mutation 2018. link
2 Gilaberte Y, González-Mediero I, López Barrantes V, Zambrano A. Juvenile hyaline fibromatosis with skull-encephalic anomalies: a case report and review of the literature. Dermatology (Basel, Switzerland) 1993. link
3 Siegle RL, Eyal FG, Rabinowitz JG. Air embolus following pulmonary interstitial emphysema in hyaline membrane disease. Clinical radiology 1976. link80020-7)