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Letter to the Editor| Volume 55, ISSUE 3, P197-200, September 2009

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Abnormal collagen deposition in fibromas from patient with juvenile hyaline fibromatosis

Published:July 12, 2010DOI:https://doi.org/10.1016/j.jdermsci.2009.06.005
Abnormal collagen deposition in fibromas from patient with juvenile hyaline fibromatosis
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      Juvenile hyaline fibromatosis (JHF [MIM #228600]) is a rare mesenchymal dysplasia that is inherited in an autosomal recessive manner. This disease is characterized by joint contracture, bone deformity, gingival hypertrophy and subcutaneous fibromatosis in the back, scalp and extremities. Fibromas of JHF are histologically characterized by the deposition of amorphous hyaline material in the extracellular milieu of the dermis and soft tissues [
      • Senzaki H.
      • Kiyozuka Y.
      • Uemura Y.
      • Shikata N.
      • Ueda S.
      • Tsubura A.
      Juvenile hyaline fibromatosis: a report of two unrelated adult sibling cases and a literature review.
      Pathol Int. 1998; 48: 230-236
      ]. Recently, mutations in capillary morphogenesis gene 2 (CMG2) were identified in JHF patients [
      • Hanks S.
      • Adams S.
      • Douglas J.
      • Arbour L.
      • Atherton D.J.
      • Balci S.
      • et al.
      Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
      Am J Hum Genet. 2003; 73: 791-800
      ,
      • Dowling O.
      • Difeo A.
      • Ramirez M.C.
      • Tukel T.
      • Narla G.
      • Bonafe L.
      • et al.
      Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
      Am J Hum Genet. 2003; 73: 957-966
      ]. CMG2 was originally identified as a gene expressed at elevated levels in human umbilical vein endothelial cells that were induced to undergo capillary formation in three-dimensional collagen matrices [
      • Bell S.E.
      • Mavila A.
      • Salazar R.
      • Bayless K.J.
      • Kanagala S.
      • Maxwell S.A.
      • et al.
      Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling.
      J Cell Sci. 2001; 114: 2755-2773
      ]. Although the precise function of CMG2 is not yet known, its von Willebrand factor type A domain binds selectively to type IV collagen and laminin, suggesting that these are its natural ligands in vivo [
      • Bell S.E.
      • Mavila A.
      • Salazar R.
      • Bayless K.J.
      • Kanagala S.
      • Maxwell S.A.
      • et al.
      Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling.
      J Cell Sci. 2001; 114: 2755-2773
      ]. However, much less is known about the relationship between mutations of CMG2 and disease symptom.

      Keywords

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      References

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        • Kiyozuka Y.
        • Uemura Y.
        • Shikata N.
        • Ueda S.
        • Tsubura A.
        Juvenile hyaline fibromatosis: a report of two unrelated adult sibling cases and a literature review.
        Pathol Int. 1998; 48: 230-236
        View in Article
        • Hanks S.
        • Adams S.
        • Douglas J.
        • Arbour L.
        • Atherton D.J.
        • Balci S.
        • et al.
        Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
        Am J Hum Genet. 2003; 73: 791-800
        View in Article
        • Dowling O.
        • Difeo A.
        • Ramirez M.C.
        • Tukel T.
        • Narla G.
        • Bonafe L.
        • et al.
        Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
        Am J Hum Genet. 2003; 73: 957-966
        View in Article
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        • Mavila A.
        • Salazar R.
        • Bayless K.J.
        • Kanagala S.
        • Maxwell S.A.
        • et al.
        Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling.
        J Cell Sci. 2001; 114: 2755-2773
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      Article info

      Publication history

      Published online: July 12, 2010
      Received: January 19, 2009

      Identification

      DOI: https://doi.org/10.1016/j.jdermsci.2009.06.005

      Copyright

      © 2009 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.

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