Juvenile Hyaline Fibromatosis
Elizabeth A. Montgomery, MD
Key Facts
Terminology
Juvenile hyaline fibromatosis (JHF)
Related disorder: Infantile systemic hyalinosis (ISH)
Clinical Issues
Autosomal recessive transmission
Infantile presentation of lesions of scalp, face, neck, retroauricular areas
Gingival hypertrophy
Cutaneous papules and plaques
Microscopic Pathology
Uniform round to spindle cells
Some in clear spaces
No significant cellular pleomorphism
No mitoses or necrosis
Homogeneous, hyalinized, pale, eosinophilic intercellular matrix
PAS positive; diastase resistant
Blood vessels sparse
 Low magnification shows juvenile hyaline fibromatosis of the face in the deep dermis  . There is a tumor-free (grenz) zone  between the epidermis and the lesional tissue. |
 Higher magnification shows scattered lesional cells in homogeneous-appearing dense eosinophilic stroma. The cells are small and uniform, arranged in short curved cords  . Some nuclei appear in spaces  . |
TERMINOLOGY
Abbreviations
Juvenile hyaline fibromatosis (JHF)
Synonyms
Related disorder: Infantile systemic hyalinosis (ISH)
Suggested synonym: Hyaline fibromatosis syndrome
Definitions
Rare autosomal recessive disorder (often found in consanguineous populations) characterized by multiple skin papules and early onset
ETIOLOGY/PATHOGENESIS
