Tricho-hepato-enteric syndrome

Tricho-hepato-enteric syndrome
Synonyms	Syndromic diarrhea, Tricho-hepato-enteric syndrome 1
Pronounce	N/A
Specialty	N/A
Symptoms	Chronic diarrhea, hair abnormalities, liver disease
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutations in SKIV2L and TTC37
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management, nutritional support
Medication	N/A
Prognosis	N/A
Frequency	N/A
Deaths	N/A

Tricho-hepato-enteric syndrome (THES) is a rare genetic disorder characterized by a combination of chronic diarrhea, distinctive hair abnormalities, and liver disease. It is also known as syndromic diarrhea or tricho-hepato-enteric syndrome 1. The condition is caused by mutations in the SKIV2L and TTC37 genes, which are involved in RNA processing and immune function.

Clinical Features

Patients with Tricho-hepato-enteric syndrome typically present in infancy with severe, intractable diarrhea that leads to malnutrition and growth failure. The diarrhea is often resistant to standard treatments and requires specialized nutritional support.

Hair abnormalities are a hallmark of the syndrome, with affected individuals often having sparse, brittle, and easily breakable hair. The hair may also have a characteristic appearance under microscopic examination.

Liver disease in THES can range from mild liver dysfunction to severe liver failure. Hepatic involvement may manifest as hepatomegaly, elevated liver enzymes, and in some cases, cirrhosis.

Other features of the syndrome can include facial dysmorphism, immunodeficiency, and developmental delay.

Genetics

Tricho-hepato-enteric syndrome is inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the mutated gene, one from each parent. The SKIV2L and TTC37 genes are located on chromosome 6 and chromosome 5, respectively. Mutations in these genes disrupt normal RNA processing and immune function, leading to the clinical manifestations of the syndrome.

Diagnosis

Diagnosis of THES is based on clinical evaluation and confirmed by genetic testing. The presence of chronic diarrhea, hair abnormalities, and liver disease in a young child should prompt consideration of this diagnosis. Genetic testing can identify mutations in the SKIV2L and TTC37 genes, confirming the diagnosis.

Management

There is no cure for Tricho-hepato-enteric syndrome, and treatment is primarily supportive. Management includes nutritional support to address malnutrition and growth failure, as well as symptomatic treatment of diarrhea. Liver function should be monitored regularly, and any complications should be managed appropriately.

Prognosis

The prognosis for individuals with THES varies depending on the severity of the symptoms and the effectiveness of supportive care. Early diagnosis and comprehensive management can improve outcomes and quality of life.

Also see

• Syndromic diarrhea
• Autosomal recessive disorders
• Genetic liver diseases
• Hair abnormalities

References

• [1] Fabre, A., et al. "Tricho-hepato-enteric syndrome: a novel disorder of hair, liver, and gut." Journal of Medical Genetics, 2012.
• [2] Hartley, J. L., et al. "Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)." Nature Genetics, 2010.