What is the definition of Howel-Evans Syndrome?
Tylosis with esophageal cancer (TOC)is an inherited condition that increases the risk for esophageal cancer. The symptoms of TOC include thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and white lesions inside the mouth. People with TOC are at very high risk to develop esophageal cancer. The palmoplantar keratoderma usually occurs in childhood, and esophageal cancer in adulthood. TOC is caused by a variant in the RHBDF2 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, family history, and may be confirmed by the results of genetic testing. Treatment is focused on managing the risk for esophageal cancer through screening and avoiding smoking and alcohol use.
What are the alternative names for Howel-Evans Syndrome?
- Keratosis palmoplantaris with esophageal cancer
- Howel-Evans syndrome
- Keratosis palmaris et plantaris with esophageal cancer
- Howell-Evans syndrome
- Keratosis palmoplantaris-esophageal carcinoma syndrome
- Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
- Tylosis - oesophageal carcinoma
- Tylosis-oesophageal carcinoma syndrome
- Palmoplantar keratoderma-esophageal carcinoma syndrome
- Bennion-Patterson syndrome
What are the causes for Howel-Evans Syndrome?
Tylosis with esophageal cancer occurs when the RHBDF2 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.
What are the symptoms for Howel-Evans Syndrome?
The following list includes the most common signs and symptoms in people with tylosis with esophageal cancer. These features may be different from person to person. Some people may have more symptoms than others and the age at which symptoms occur may vary. This list does not include every symptom that has been described in the condition.
Symptoms of tylosis with esophageal cancer may include:
- Thickened, yellowish skin on the soles of the feet and palms (palmoplantar keratoderma)
- Patches on the tongue, cheek, or mouth (oral leukoplakia)
- Esophageal cancer
The skin findings usually begins in childhood. Esophageal cancer usually develops by mid-adulthood. The symptoms of esophageal cancer may include difficulty swallowing, loss of appetite and weight loss.
What are the current treatments for Howel-Evans Syndrome?
Treatment of tylosis with esophageal cancer is focused on early detection of esophageal cancer, as well as diet and lifestyle modifications. These modifications include quitting smoking and restricting alcohol use. The skin findings are treated with lotions and medications as necessary.
Specialists involved in the care of someone with tylosis with esophageal cancer may include:
How is Howel-Evans Syndrome diagnosed?
Tylosis with esophageal cancer is diagnosed based on the symptoms, clinical exam, family history, and confirmed by the results of genetic testing. A small piece of any esophageal lesions may be removed for examination under the microscope (biopsy) to help diagnose cancer. Imaging studies may also be helpful.
Is Howel-Evans Syndrome an inherited disorder?
Tylosis with esophageal cancer is inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The variant can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic variant (de novo) and there is no history of this condition in the family.
Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the variant and the condition. Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition.