Infantile systemic hyalinosis

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

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

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

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 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

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

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

• Genetic disorder
• Autosomal recessive
• Extracellular matrix
• Histopathology

External links

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