Short answer · Medically reviewed summary · Last updated: 2026-05-08
Juvenile Hyaline Fibromatosis (JHF) is classified under the ICD-10 code Q87.89 (other specified congenital malformation syndromes) and the ICD-9 code 759.89 (other specified congenital anomalies). Because Juvenile Hyaline Fibromatosis is an ultra-rare genetic condition, it does not have a unique, disease-specific code in either system, which is common for rare connective tissue disorders. What is the clinical nature of Juvenile Hyaline Fibromatosis? Juvenile Hyaline Fibromatosis is a rare, progressive autosomal recessive disorder characterized by the accumulation of hyaline material in the skin and other tissues.
ICD10 code of Juvenile Hyaline Fibromatosis and ICD9 code
ICD-10 and ICD-9 codes for Juvenile Hyaline Fibromatosis, with classification details for clinicians, coders and patients.
Juvenile Hyaline Fibromatosis (JHF) is classified under the ICD-10 code Q87.89 (other specified congenital malformation syndromes) and the ICD-9 code 759.89 (other specified congenital anomalies). Because Juvenile Hyaline Fibromatosis is an ultra-rare genetic condition, it does not have a unique, disease-specific code in either system, which is common for rare connective tissue disorders.
What is the clinical nature of Juvenile Hyaline Fibromatosis?
Juvenile Hyaline Fibromatosis is a rare, progressive autosomal recessive disorder characterized by the accumulation of hyaline material in the skin and other tissues. Individuals with Juvenile Hyaline Fibromatosis often present with skin nodules, gingival hypertrophy, and joint contractures. The disease is caused by mutations in the CMG2 (also known as ANTXR2) gene, which plays a crucial role in vascular development and extracellular matrix homeostasis.
Is Juvenile Hyaline Fibromatosis hereditary?
Yes, Juvenile Hyaline Fibromatosis follows an autosomal recessive inheritance pattern. This means that for a child to be born with Juvenile Hyaline Fibromatosis, both biological parents must carry one copy of the mutated CMG2 gene. Genetic counseling is highly recommended for families affected by this condition to understand the 25% recurrence risk for each subsequent pregnancy.
What are the primary clinical features of Juvenile Hyaline Fibromatosis?
The progression of Juvenile Hyaline Fibromatosis varies by individual, but clinical management often focuses on the following primary symptoms:
- Skin lesions: Development of subcutaneous nodules, frequently on the scalp, face, and extremities.
- Gingival hypertrophy: Significant overgrowth of the gum tissue, which can interfere with dental health and nutrition.
- Joint limitations: Progressive joint stiffness and contractures that may impact mobility.
- Osteolytic bone lesions: Small areas of bone loss that may be identified via radiological imaging.
Next steps
- Consult with a clinical geneticist to confirm the diagnosis through ANTXR2 gene sequencing.
- Connect with the 7 members of our DiseaseMaps.org community who share experiences managing Juvenile Hyaline Fibromatosis.
- Coordinate care with a multidisciplinary team, including dermatologists, dentists, and physical therapists, to address the specific symptoms of Juvenile Hyaline Fibromatosis.
Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.
References
- Orphanet: Juvenile Hyaline Fibromatosis (ORPHA:333)
- NIH GARD: Genetic and Rare Diseases Information Center - Juvenile Hyaline Fibromatosis
- OMIM (Online Mendelian Inheritance in Man): Hyaline Fibromatosis Syndrome (#228600)
- PubMed: Clinical and molecular features of ANTXR2-related hyaline fibromatosis syndromes
