Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene
Juvenile hyaline fibromatosis (JHF) is a rare condition of childhood characterized by deposition of an amorphous substance of unclear nature in the dermis and subcutaneous tissues. The clinical picture includes painful skin lesions, leading to impairment of movements and severe disabilities. The all...
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| Veröffentlicht in: | The American journal of dermatopathology 2007-02, Vol.29 (1), p.99-103 |
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| container_title | The American journal of dermatopathology |
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| creator | ANTAYA, Richard J CAJAIBA, Mariana M MADRI, Joseph LOPEZ, Maria A RAMIREZ, Maria Celeste M MARTIGNETTI, John A REYES-MUGICA, Miguel |
| description | Juvenile hyaline fibromatosis (JHF) is a rare condition of childhood characterized by deposition of an amorphous substance of unclear nature in the dermis and subcutaneous tissues. The clinical picture includes painful skin lesions, leading to impairment of movements and severe disabilities. The allelic disease, infantile systemic hyalinosis (ISH), clinically overlaps with JHF but shows a worse picture with visceral involvement. Recently, germline mutations in the capillary morphogenesis gene-2 (CMG2) were found to be responsible for both diseases. Here, we present a case with classical clinicopathologic findings of JHF and features of ISH, and we describe a novel mutation in CMG2. |
| doi_str_mv | 10.1097/01.dad.0000245636.39098.e5 |
| format | Article |
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The clinical picture includes painful skin lesions, leading to impairment of movements and severe disabilities. The allelic disease, infantile systemic hyalinosis (ISH), clinically overlaps with JHF but shows a worse picture with visceral involvement. Recently, germline mutations in the capillary morphogenesis gene-2 (CMG2) were found to be responsible for both diseases. Here, we present a case with classical clinicopathologic findings of JHF and features of ISH, and we describe a novel mutation in CMG2.</description><identifier>ISSN: 0193-1091</identifier><identifier>EISSN: 1533-0311</identifier><identifier>DOI: 10.1097/01.dad.0000245636.39098.e5</identifier><identifier>PMID: 17284973</identifier><identifier>CODEN: AJODDB</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Alleles ; Biological and medical sciences ; Connective Tissue Diseases - diagnosis ; Connective Tissue Diseases - genetics ; Connective Tissue Diseases - metabolism ; Connective Tissue Diseases - pathology ; Dermatology ; DNA - genetics ; Female ; Fibroma - diagnosis ; Fibroma - genetics ; Fibroma - metabolism ; Fibroma - pathology ; Germ-Line Mutation ; Humans ; Hyalin - metabolism ; Infant ; Medical sciences ; Membrane Proteins - genetics ; Membrane Proteins - metabolism ; Receptors, Peptide ; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. 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The clinical picture includes painful skin lesions, leading to impairment of movements and severe disabilities. The allelic disease, infantile systemic hyalinosis (ISH), clinically overlaps with JHF but shows a worse picture with visceral involvement. Recently, germline mutations in the capillary morphogenesis gene-2 (CMG2) were found to be responsible for both diseases. Here, we present a case with classical clinicopathologic findings of JHF and features of ISH, and we describe a novel mutation in CMG2.</description><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Connective Tissue Diseases - diagnosis</subject><subject>Connective Tissue Diseases - genetics</subject><subject>Connective Tissue Diseases - metabolism</subject><subject>Connective Tissue Diseases - pathology</subject><subject>Dermatology</subject><subject>DNA - genetics</subject><subject>Female</subject><subject>Fibroma - diagnosis</subject><subject>Fibroma - genetics</subject><subject>Fibroma - metabolism</subject><subject>Fibroma - pathology</subject><subject>Germ-Line Mutation</subject><subject>Humans</subject><subject>Hyalin - metabolism</subject><subject>Infant</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Membrane Proteins - metabolism</subject><subject>Receptors, Peptide</subject><subject>Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis</subject><subject>Skin - metabolism</subject><subject>Skin - pathology</subject><subject>Skin Diseases - diagnosis</subject><subject>Skin Diseases - genetics</subject><subject>Skin Diseases - metabolism</subject><subject>Skin Diseases - pathology</subject><issn>0193-1091</issn><issn>1533-0311</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkc1u3SAUhFHVqLlN-woVqtTs7IAxNnRXRemfInXTrtGxOe6lssE1ONF9jT5xcWLpskGCb-YMDCHvOSs50-0N46UFW7K8qlo2oimFZlqVKF-QA5dCFExw_pIcGNeiyBJ-SV7H-IcxXikmX5FL3laq1q04kH_f1wf0bkR6PMHoPNLBdUuYIIXoIgVvqfMD-LQh8RQTTq7f2SciPOAywkwhxtA7SGjpo0tHCtTnq5FOa4Lkgs82tIfZjSMsJzqFZT6G3-hx85iXkND5oqLbyRtyMcAY8e2-X5Ffn-9-3n4t7n98-Xb76b7oRd2mQgotbN210rYd1F2lFcNB8abpBNdQt6zSNn8GB0Ah5KCajsm6rS3jllndDOKKXD_75vF_V4zJTC72mAN6DGs0jdJK1opl8OMz2C8hxgUHMy9uys8wnJmtEcO4yY2YcyPmqRGDMovf7VPWbkJ7lu4VZODDDkDsYRwW8L2LZ07l0FuK_3f8mN0</recordid><startdate>20070201</startdate><enddate>20070201</enddate><creator>ANTAYA, Richard J</creator><creator>CAJAIBA, Mariana M</creator><creator>MADRI, Joseph</creator><creator>LOPEZ, Maria A</creator><creator>RAMIREZ, Maria Celeste M</creator><creator>MARTIGNETTI, John A</creator><creator>REYES-MUGICA, Miguel</creator><general>Lippincott Williams & Wilkins</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20070201</creationdate><title>Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene</title><author>ANTAYA, Richard J ; CAJAIBA, Mariana M ; MADRI, Joseph ; LOPEZ, Maria A ; RAMIREZ, Maria Celeste M ; MARTIGNETTI, John A ; REYES-MUGICA, Miguel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c347t-5393d4b75d7ba4b2980ef8166b319a47029d1531aae335f86b05474d01d0d96f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Connective Tissue Diseases - diagnosis</topic><topic>Connective Tissue Diseases - genetics</topic><topic>Connective Tissue Diseases - metabolism</topic><topic>Connective Tissue Diseases - pathology</topic><topic>Dermatology</topic><topic>DNA - genetics</topic><topic>Female</topic><topic>Fibroma - diagnosis</topic><topic>Fibroma - genetics</topic><topic>Fibroma - metabolism</topic><topic>Fibroma - pathology</topic><topic>Germ-Line Mutation</topic><topic>Humans</topic><topic>Hyalin - metabolism</topic><topic>Infant</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Membrane Proteins - metabolism</topic><topic>Receptors, Peptide</topic><topic>Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis</topic><topic>Skin - metabolism</topic><topic>Skin - pathology</topic><topic>Skin Diseases - diagnosis</topic><topic>Skin Diseases - genetics</topic><topic>Skin Diseases - metabolism</topic><topic>Skin Diseases - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>ANTAYA, Richard J</creatorcontrib><creatorcontrib>CAJAIBA, Mariana M</creatorcontrib><creatorcontrib>MADRI, Joseph</creatorcontrib><creatorcontrib>LOPEZ, Maria A</creatorcontrib><creatorcontrib>RAMIREZ, Maria Celeste M</creatorcontrib><creatorcontrib>MARTIGNETTI, John A</creatorcontrib><creatorcontrib>REYES-MUGICA, Miguel</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The American journal of dermatopathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>ANTAYA, Richard J</au><au>CAJAIBA, Mariana M</au><au>MADRI, Joseph</au><au>LOPEZ, Maria A</au><au>RAMIREZ, Maria Celeste M</au><au>MARTIGNETTI, John A</au><au>REYES-MUGICA, Miguel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene</atitle><jtitle>The American journal of dermatopathology</jtitle><addtitle>Am J Dermatopathol</addtitle><date>2007-02-01</date><risdate>2007</risdate><volume>29</volume><issue>1</issue><spage>99</spage><epage>103</epage><pages>99-103</pages><issn>0193-1091</issn><eissn>1533-0311</eissn><coden>AJODDB</coden><abstract>Juvenile hyaline fibromatosis (JHF) is a rare condition of childhood characterized by deposition of an amorphous substance of unclear nature in the dermis and subcutaneous tissues. The clinical picture includes painful skin lesions, leading to impairment of movements and severe disabilities. The allelic disease, infantile systemic hyalinosis (ISH), clinically overlaps with JHF but shows a worse picture with visceral involvement. Recently, germline mutations in the capillary morphogenesis gene-2 (CMG2) were found to be responsible for both diseases. Here, we present a case with classical clinicopathologic findings of JHF and features of ISH, and we describe a novel mutation in CMG2.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>17284973</pmid><doi>10.1097/01.dad.0000245636.39098.e5</doi><tpages>5</tpages></addata></record> |
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| subjects | Alleles Biological and medical sciences Connective Tissue Diseases - diagnosis Connective Tissue Diseases - genetics Connective Tissue Diseases - metabolism Connective Tissue Diseases - pathology Dermatology DNA - genetics Female Fibroma - diagnosis Fibroma - genetics Fibroma - metabolism Fibroma - pathology Germ-Line Mutation Humans Hyalin - metabolism Infant Medical sciences Membrane Proteins - genetics Membrane Proteins - metabolism Receptors, Peptide Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis Skin - metabolism Skin - pathology Skin Diseases - diagnosis Skin Diseases - genetics Skin Diseases - metabolism Skin Diseases - pathology |
| title | Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene |
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