Infantile systemic hyalinosis: Difference between revisions
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[[ | {{SI}} | ||
{{Infobox medical condition | |||
| name = Infantile systemic hyalinosis | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Infantile systemic hyalinosis is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = [[Juvenile systemic hyalinosis]] | |||
| field = [[Genetics]] | |||
| symptoms = [[Pain]], [[joint contractures]], [[gingival hypertrophy]], [[skin thickening]], [[recurrent infections]] | |||
| complications = [[Failure to thrive]], [[severe pain]], [[mobility issues]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic]] | |||
| causes = Mutations in the [[anthrax toxin receptor 2]] (ANTXR2) gene | |||
| risks = [[Consanguinity]] | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Farber disease]], [[fucosidosis]], [[mucopolysaccharidosis]] | |||
| treatment = [[Supportive care]], [[pain management]], [[physical therapy]] | |||
| prognosis = [[Poor]] | |||
| frequency = Rare | |||
}} | |||
'''Infantile systemic hyalinosis''' is a rare [[genetic disorder]] characterized by the abnormal accumulation of [[hyaline]] material in various tissues of the body. This condition is typically evident in infancy and can lead to severe complications. | |||
==Presentation== | ==Presentation== | ||
Infantile systemic hyalinosis presents with a variety of symptoms, including [[pain]], [[joint contractures]], [[skin thickening]], and [[gingival hypertrophy]]. Affected infants may also exhibit [[failure to thrive]], [[recurrent infections]], and [[gastrointestinal]] issues such as [[chronic diarrhea]]. | Infantile systemic hyalinosis presents with a variety of symptoms, including [[pain]], [[joint contractures]], [[skin thickening]], and [[gingival hypertrophy]]. Affected infants may also exhibit [[failure to thrive]], [[recurrent infections]], and [[gastrointestinal]] issues such as [[chronic diarrhea]]. | ||
==Genetics== | ==Genetics== | ||
The disorder is inherited in an [[autosomal recessive]] manner, meaning that both copies of the gene in each cell have mutations. The specific gene associated with infantile systemic hyalinosis is [[anthrax toxin receptor 2]] (ANTXR2), also known as CMG2. | The disorder is inherited in an [[autosomal recessive]] manner, meaning that both copies of the gene in each cell have mutations. The specific gene associated with infantile systemic hyalinosis is [[anthrax toxin receptor 2]] (ANTXR2), also known as CMG2. | ||
==Pathophysiology== | ==Pathophysiology== | ||
The accumulation of hyaline material in tissues is due to mutations in the ANTXR2 gene, which encodes a protein involved in the regulation of extracellular matrix components. This leads to the abnormal deposition of hyaline, a glassy, eosinophilic substance, in the skin, gastrointestinal tract, and other organs. | The accumulation of hyaline material in tissues is due to mutations in the ANTXR2 gene, which encodes a protein involved in the regulation of extracellular matrix components. This leads to the abnormal deposition of hyaline, a glassy, eosinophilic substance, in the skin, gastrointestinal tract, and other organs. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of infantile systemic hyalinosis is based on clinical findings, [[histopathological]] examination of affected tissues, and genetic testing to identify mutations in the ANTXR2 gene. | Diagnosis of infantile systemic hyalinosis is based on clinical findings, [[histopathological]] examination of affected tissues, and genetic testing to identify mutations in the ANTXR2 gene. | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for infantile systemic hyalinosis. Treatment is primarily supportive and focuses on managing symptoms and improving quality of life. This may include [[pain management]], nutritional support, and physical therapy to address joint contractures. | There is currently no cure for infantile systemic hyalinosis. Treatment is primarily supportive and focuses on managing symptoms and improving quality of life. This may include [[pain management]], nutritional support, and physical therapy to address joint contractures. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for infants with systemic hyalinosis is generally poor, with many affected individuals succumbing to complications in early childhood. However, the severity of the condition can vary, and some individuals may live longer with appropriate supportive care. | The prognosis for infants with systemic hyalinosis is generally poor, with many affected individuals succumbing to complications in early childhood. However, the severity of the condition can vary, and some individuals may live longer with appropriate supportive care. | ||
==See also== | ==See also== | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
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* [[Extracellular matrix]] | * [[Extracellular matrix]] | ||
* [[Histopathology]] | * [[Histopathology]] | ||
==References== | ==References== | ||
{{Reflist}} | {{Reflist}} | ||
==External links== | ==External links== | ||
{{No external links}} | {{No external links}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Autosomal recessive disorders]] | [[Category:Autosomal recessive disorders]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 00:36, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Infantile systemic hyalinosis | |
|---|---|
| |
| Synonyms | Juvenile systemic hyalinosis |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Pain, joint contractures, gingival hypertrophy, skin thickening, recurrent infections |
| Complications | Failure to thrive, severe pain, mobility issues |
| Onset | Infancy |
| Duration | Chronic |
| Types | N/A |
| Causes | Mutations in the anthrax toxin receptor 2 (ANTXR2) gene |
| Risks | Consanguinity |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Farber disease, fucosidosis, mucopolysaccharidosis |
| Prevention | N/A |
| Treatment | Supportive care, pain management, physical therapy |
| Medication | N/A |
| Prognosis | Poor |
| Frequency | Rare |
| Deaths | N/A |
Infantile systemic hyalinosis is a rare genetic disorder characterized by the abnormal accumulation of hyaline material in various tissues of the body. This condition is typically evident in infancy and can lead to severe complications.
Presentation[edit]
Infantile systemic hyalinosis presents with a variety of symptoms, including pain, joint contractures, skin thickening, and gingival hypertrophy. Affected infants may also exhibit failure to thrive, recurrent infections, and gastrointestinal issues such as chronic diarrhea.
Genetics[edit]
The disorder is inherited in an autosomal recessive manner, meaning that both copies of the gene in each cell have mutations. The specific gene associated with infantile systemic hyalinosis is anthrax toxin receptor 2 (ANTXR2), also known as CMG2.
Pathophysiology[edit]
The accumulation of hyaline material in tissues is due to mutations in the ANTXR2 gene, which encodes a protein involved in the regulation of extracellular matrix components. This leads to the abnormal deposition of hyaline, a glassy, eosinophilic substance, in the skin, gastrointestinal tract, and other organs.
Diagnosis[edit]
Diagnosis of infantile systemic hyalinosis is based on clinical findings, histopathological examination of affected tissues, and genetic testing to identify mutations in the ANTXR2 gene.
Treatment[edit]
There is currently no cure for infantile systemic hyalinosis. Treatment is primarily supportive and focuses on managing symptoms and improving quality of life. This may include pain management, nutritional support, and physical therapy to address joint contractures.
Prognosis[edit]
The prognosis for infants with systemic hyalinosis is generally poor, with many affected individuals succumbing to complications in early childhood. However, the severity of the condition can vary, and some individuals may live longer with appropriate supportive care.
See also[edit]
References[edit]
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External links[edit]
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