[Juvenile hyaline fibromatosis (JHF)].
The juvenile hyaline fibromatosis (JHF) is a rare tumorous autosomal recessive disease of the connective tissue. The etiopathogenesis of the disease is unknown. Typical diagnostic criteria are multiple hyaline subcutaneous fibroma, filamentous tumors of the skin, gingival hypertrophy, muscle contractures of the extremities and multiple osteolytic bone destructions. Involvement of visceral organs is not described. Mental development and life expectancy are normal. Until today, no causal treatment of the JHF exists. Surgical excision of the dermal tumors is indicated for functional and aesthetic improvement. Complete excision should be executed in the early phase of their development. This has shown the best functional and aesthetic results, especially in facial areas. The progress of the disease is individual. Due to frequent recurrencies, repeated resections and revisions may be necessary. Interdisciplinal counseling and therapy, particularly physiotherapy, may partially improve the state of function.
Klinik und Poliklinik für Hals-, Nasen-, Ohrenheilkunde, Universität Ulm. ent.department@medizin.uni-ulm.de
J
J
Lindemann
D
D
Richter
W
W
Mohr
M
M
Zenkel
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003238:Connective Tissue / Q000473:pathology; D005153:Facial Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005350:Fibroma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive / Q000235:genetics; D006258:Head and Neck Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male