Three years old child with juvenile hyaline fibromatosis presenting with rectal bleeding

Kapeel Raja, Mohammad Arsalan Khan, Mohammad Mubarak, Zaigham Abbas, Nasir Hassan Luck, Syed Mujahid Hassan

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)396-398
Number of pages3
JournalJournal of the Pakistan Medical Association
Issue number3
Publication statusPublished - 2013
Externally publishedYes


  • Inherited autosomal recessive disorder
  • Juvenile hyaline fibromatosis


Dive into the research topics of 'Three years old child with juvenile hyaline fibromatosis presenting with rectal bleeding'. Together they form a unique fingerprint.

Cite this