Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation
Infantile Systemic Hyalinosis (ISH) (OMIM 236490) is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infecti...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Oman Medical Specialty Board
2013-01-01
|
| Series: | Oman Medical Journal |
| Subjects: | |
| Online Access: | http://www.omjournal.org/fultext_PDF.aspx?DetailsID=335&type=fultext |
| _version_ | 1818428736063668224 |
|---|---|
| author | Siham Al Sinani Fathyia Al Murshedy Reem Abdwani |
| author_facet | Siham Al Sinani Fathyia Al Murshedy Reem Abdwani |
| author_sort | Siham Al Sinani |
| collection | DOAJ |
| description | Infantile Systemic Hyalinosis (ISH) (OMIM 236490) is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. It is caused by mutations in the ANTXR2 (also known as CMG2) gene, which encodes a trans-membranous protein involved in endothelial development and basement membrane-extracellular matrix assembly. We describe a child with classical features of ISH presenting in infancy with severe chronic debilitating pain and progressive joint contractures. The diagnosis was confirmed by molecular DNA sequencing of ANTXR2 gene which revealed a novel homozygous mutation not previously reported; 79 bp deletion of the entire exon 11 (c.867_945del, p.E289DfsX22). Although this is the first reported case of ISH in Oman, we believe that the disease is under-diagnosed since children affected with this lethal disease pass away early in infancy prior to establishing a final diagnosis. |
| first_indexed | 2024-12-14T15:06:21Z |
| format | Article |
| id | doaj.art-5a641d08808743039d4960275f9afa40 |
| institution | Directory Open Access Journal |
| issn | 1999-768X 2070-5204 |
| language | English |
| last_indexed | 2024-12-14T15:06:21Z |
| publishDate | 2013-01-01 |
| publisher | Oman Medical Specialty Board |
| record_format | Article |
| series | Oman Medical Journal |
| spelling | doaj.art-5a641d08808743039d4960275f9afa402022-12-21T22:56:41ZengOman Medical Specialty BoardOman Medical Journal1999-768X2070-52042013-01-012815355Infantile Systemic Hyalinosis: A Case Report with a Novel MutationSiham Al SinaniFathyia Al MurshedyReem AbdwaniInfantile Systemic Hyalinosis (ISH) (OMIM 236490) is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. It is caused by mutations in the ANTXR2 (also known as CMG2) gene, which encodes a trans-membranous protein involved in endothelial development and basement membrane-extracellular matrix assembly. We describe a child with classical features of ISH presenting in infancy with severe chronic debilitating pain and progressive joint contractures. The diagnosis was confirmed by molecular DNA sequencing of ANTXR2 gene which revealed a novel homozygous mutation not previously reported; 79 bp deletion of the entire exon 11 (c.867_945del, p.E289DfsX22). Although this is the first reported case of ISH in Oman, we believe that the disease is under-diagnosed since children affected with this lethal disease pass away early in infancy prior to establishing a final diagnosis.http://www.omjournal.org/fultext_PDF.aspx?DetailsID=335&type=fultextInfantile systemic hyalinosisJoint contracturesSkin thickness. |
| spellingShingle | Siham Al Sinani Fathyia Al Murshedy Reem Abdwani Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation Oman Medical Journal Infantile systemic hyalinosis Joint contractures Skin thickness. |
| title | Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation |
| title_full | Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation |
| title_fullStr | Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation |
| title_full_unstemmed | Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation |
| title_short | Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation |
| title_sort | infantile systemic hyalinosis a case report with a novel mutation |
| topic | Infantile systemic hyalinosis Joint contractures Skin thickness. |
| url | http://www.omjournal.org/fultext_PDF.aspx?DetailsID=335&type=fultext |
| work_keys_str_mv | AT sihamalsinani infantilesystemichyalinosisacasereportwithanovelmutation AT fathyiaalmurshedy infantilesystemichyalinosisacasereportwithanovelmutation AT reemabdwani infantilesystemichyalinosisacasereportwithanovelmutation |