(Juvenile) Hyaline Fibromatosis
Definition
- Hereditary disorder presenting in children characterized by hyalinized nodules in skin, subcutis and soft tissues
Alternate / Historical Names
- Fibromatosis hyalinica multiplex juvenilis
- Infantile systemic hyalinosis
- Juvenile hyaline fibromatosis
- Molluscum fibrosum
- Murray-Puretic-Drescher syndrome
Diagnostic Criteria
- Presents in childhood
- Usually under age 4 years
- Most survive into adulthood
- Nodules continue to appear throughout life
- Autosomal recessive
- Clinical syndrome includes:
- Painful joint contractures
- Gingival hyperplasia
- Hyalinized nodule
- Deposits of amorphous ground substance
- No mature collagen or elastic fibers
- Bland fibroblasts with small dark nuclei
- Hyaline fibromatosis may form a spectrum with infantile systemic hyalinosis
- Present at birth
- Most dead by 20 weeks age
- Autosomal recessive
- Stiff thick skin
- Hyaline material in papillary dermis
- Focal nodularity but not prominent
- Gingival hyperplasia
- Painful joint contractures
- Visceral involvement
- Diarrhea
- Cases described with features of both diseases
- Present at birth
Robert V Rouse MD
Department of Pathology
Stanford University School of Medicine
Stanford CA 94305-5342
Original posting/updates: 1/20/07, 1/29/12
