Juvenile hyaline fibromatosis - Skin in Child
Cutaneous lesions are asymptomatic and slow growing, presenting as pink papules or nodules, commonly on the head, back, and knees. Gingival hypertrophy may be severe enough to interfere with feeding, leading to malnutrition as well as recurrent infections. The most debilitating features are the progressively painful joint contractures, often of the knees, elbows, fingers, and hip joints.
Patients do not have systemic involvement, but this progressive disabling disorder causes most adolescent and adults to become bedridden, with most surviving only to the fourth decade.
For more information, see OMIM.
M72.8 – Other fibroblastic disorders
238861002 – Juvenile hyaline fibromatosis
- Infantile systemic hyalinosis – Earlier onset; more serious form with diffuse skin thickening, diarrhea, frequent severe infections, and fatal outcome.
- Gingival fibromatosis – Limited to gingiva.
- Congenital generalized fibromatosis – Visceral involvement and death shortly after birth.
- Winchester syndrome – Short stature, osteopenia, corneal opacities; skin lesions are not common.
- Neurofibromatosis – Older children, café au lait macules, axillary or inguinal freckling, Lisch nodules, neurofibromas.