title: Juvenile non-hyaline fibromatosis: juvenile hyaline fibromatosis without prominent hyaline changes.
abstract: Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease of the connective tissue. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, osteolytic bone lesions and flexion contractures of the large joints. Here, we report a 14-year-old girl with characteristic clinical features of JHF with early fatal outcome. Dermatopathologic examination of the early lesions however constantly lacked the so-called hyalin changes in multiple skin biopsies. According to our experience; dermatopathological features of this entity is not often and always consists of classical hyalinisation. Only larger lesions with long duration should expected to be exhibiting those features. Therefore we suggest that; JHF may often present itself as Juvenile Non-Hyaline Fibromatosis: JHF without prominent hyaline changes. And thus this fact should not change the actual diagnosis and prognostic implications.
authors.affiliation: Department of Dermatology, Ankara University Medical School, Ankara, Turkey. ranaanadolu@hotmail.com
authors.forename: Rana Yavuzer
authors.initials: RY
authors.lastname: Anadolu
authors.forename: Tugba
authors.initials: T
authors.lastname: Oskay
authors.forename: Nesrin
authors.initials: N
authors.lastname: Ozsoy
authors.forename: Cengizhan
authors.initials: C
authors.lastname: Erdem
mesh_terms: D000293:Adolescent; D003286:Contracture / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005351:Fibromatosis, Gingival / Q000378:metabolism / Q000473:pathology*; D005885:Gingival Hyperplasia / Q000473:pathology; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D010014:Osteolysis / Q000473:pathology; D012871:Skin Diseases / Q000378:metabolism / Q000473:pathology*; D013577:Syndrome