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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
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Three years old child with juvenile hyaline fibromatosis presenting with rectal bleeding

Kapeel Raja1, Mohammad Arsalan Khan, Mohammad Mubarak

  • 1Department of Hepatogastroenterlogy, Sindh Institute of Urology and Transplantation, Karachi, Pakistan. kapeelraja@yahoo.com

JPMA. the Journal of the Pakistan Medical Association
|August 7, 2013
PubMed

Insights

Juvenile hyaline fibromatosis, a rare genetic disorder caused by CMG2 gene mutations, can lead to rectal bleeding. This case highlights the importance of considering this condition in children with unexplained bleeding and characteristic lesions.

Area of Science:

  • Genetics
  • Pathology
  • Pediatrics

Background:

  • Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disorder.
  • Mutations in the CMG2 gene on chromosome 4q21 disrupt basement membrane formation.
  • This disruption leads to hyalinization of tissues, causing various clinical manifestations.

Observation:

  • A 3-year-old female presented with rectal bleeding.
  • Clinical examination revealed a bleeding mucocutaneous lesion in the anal canal.
  • Additional findings included facial papullonodular lesions, gingival hypertrophy, and joint contractures.

Findings:

  • Histopathological examination of the excised anal lesion confirmed Juvenile Hyaline Fibromatosis.
  • The case illustrates a rare presentation of JHF with significant rectal bleeding.

Implications:

  • This case underscores the diagnostic challenge of JHF, particularly its gastrointestinal manifestations.
  • Early recognition and diagnosis are crucial for managing patients with JHF.
  • Further research into CMG2 gene function and therapeutic strategies for JHF is warranted.

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