title: Juvenile hyaline fibromatosis: a case report.
abstract: Juvenile hyaline fibromatosis is a rare, hereditary disease with distinct clinical and histopathological features. Clinically, it presents with gingival hypertrophy, pappulonodular skin lesions and joint contractures. Bone involvement is usually an uncommon finding. We report a case of a 2-year-old patient, daughter of consanguineous parents, who presented since the age of 2 months with impairment of mental development, multiple joint contractures, motion limitation and nodules on the scalp. The calvarian lesions were surgically removed, and histopathological examination concluded to juvenile hyaline fibromatosis.
authors.forename: S
authors.initials: S
authors.lastname: Mestiri
authors.forename: N
authors.initials: N
authors.lastname: Labaied
authors.forename: N
authors.initials: N
authors.lastname: Mama
authors.forename: A
authors.initials: A
authors.lastname: Ayadi
authors.forename: M
authors.initials: M
authors.lastname: Ladib
authors.forename: B
authors.initials: B
authors.lastname: Sriha
authors.forename: H
authors.initials: H
authors.lastname: Krifa
authors.forename: M
authors.initials: M
authors.lastname: Mokni
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D001706:Biopsy; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002675:Child, Preschool; D003286:Contracture / Q000175:diagnosis / Q000209:etiology / Q000378:metabolism; D005260:Female; D005886:Gingival Hypertrophy / Q000175:diagnosis / Q000209:etiology / Q000378:metabolism; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D057770:Hyaline Fibromatosis Syndrome / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology / Q000601:surgery; D008279:Magnetic Resonance Imaging; D011237:Predictive Value of Tests; D012867:Skin / Q000378:metabolism / Q000473:pathology
chemical_list: D015415:Biomarkers