Author/Authors :
Raja, Kapeel Sindh Institute of Urology and Transplantation - Department of Hepatogastroenterlogy, Pakistan , Khan, Mohammad Arsalan Sindh Institute of Urology and Transplantation - Department of Nephrology, Pakistan , Mubarak, Mohammad Sindh Institute of Urology and Transplantation - Department of Histopathology, Pakistan , Abbas, Zaigham Sindh Institute of Urology and Transplantation (SIUT) - Department of Hepatogastroentrology, Pakistan , Luck, Nasir Hassan Sindh Institute of Urology and Transplantation (SIUT) - Department of Hepatogastroentrology, Pakistan , Hassan, Syed Mujahid Sindh Institute of Urology and Transplantation (SIUT) - Department of Hepatogastroentrology, Pakistan
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
