title: Three years old child with juvenile hyaline fibromatosis presenting with rectal bleeding.
abstract: Juvenile hyaline fibromatosis is a rare inherited autosomal recessive disorder which is caused by mutation of CMG2 gene on chromosome 4q21. Mutation of this gene protein can disrupt the formation of basement membranes. Hyalinization of various body tissues like skin, joints, and bones leads to development of skin papules, gingival hyperplasia, osteolytic lesions in bones, and joint contractures. We had a case of a 3 years old female child with Juvenile Hyaline Fibromatosis who presented with rectal bleeding. She had a bleeding mucocutaneous lesion in anal canal along with papullonodular lesions on the face, gingival hypertrophy and flexion contractures of small joints of hands and feet. Excision of the anal lesion revealed histopathological features of Juvenile Hyaline Fibromatosis.
authors.affiliation: Department of Hepatogastroenterlogy, Sindh Institute of Urology and Transplantation, Karachi, Pakistan. kapeelraja@yahoo.com
authors.forename: Kapeel
authors.initials: K
authors.lastname: Raja
authors.forename: Mohammad Arsalan
authors.initials: MA
authors.lastname: Khan
authors.forename: Mohammad
authors.initials: M
authors.lastname: Mubarak
authors.forename: Zaigham
authors.initials: Z
authors.lastname: Abbas
authors.forename: Nasir Hassan
authors.initials: NH
authors.lastname: Luck
authors.forename: Syed Mujahid
authors.initials: SM
authors.lastname: Hassan
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology*; D006801:Humans; D057770:Hyaline Fibromatosis Syndrome / Q000150:complications* / Q000175:diagnosis*