BONE TUMOR-EPIDERMOID CYST POLYPOSIS

Overview and Facts

Bone tumor-epidermoid cyst polyposis is a hereditary condition marked by gastrointestinal polyps, numerous benign bone tumors or osteomas, and various soft tissue and skin tumors. Polyps often occur throughout the teenage years, with the typical age of diagnosis being about 25 years old. Polyps have a nearly 100% chance of malignant development, leading to colorectal cancer; consequently, early identification of bone tumor-epidermoid cyst is critical.

Furthermore, bone tumor-epidermoid cyst polyposis is caused by abnormalities in the APC genes on chromosome 5q22. The gene is involved in suppressing tumors. Because bone tumor-epidermoid cyst develops as an autosomal dominant trait, an individual with it has a fifty percent likelihood of transmitting it to one of their offspring. 

Types and Symptoms

SYMPTOMS

The emergence of epidermoid cysts is the most apparent indication of bone tumor-epidermoid cyst, whereas numerous polyps in the gut lining are the most prevalent. Other parts of the body with further growth include:

  • Congenital hypertrophy of retinal pigment epithelium (CHRPE)
  • Extra teeth or other dental abnormalities
  • Polyps in the small intestine or the stomach
  • Adenomas 
  • Epithelial cysts
  • Epidermoid cysts 
  • Lipomas 
  • Fibromas 
  • Desmoid tumors 
  • Osteomas

These noncancerous growths generally appear throughout adolescence and might go undiagnosed for decades.

Diagnosis & Medications

DIAGNOSIS

Bone tumor-epidermoid cyst polyposis manifests itself in a variety of ways. It might be diagnosed by performing the following tests:

  • Colonoscopy
  • Endoscopy
  • Genetic testing for APC gene mutations. 

Your doctor might offer genetic testing when you have a close relative who has bone tumor-epidermoid cyst polyposis.

TREATMENT

Treatment of bone tumor-epidermoid cyst polyposis is determined by the symptoms you are exhibiting. 

  • Epidermoid cysts are treated the same way as other cysts with excision. When the cysts are irritated, intralesional steroid injections might be administered.
  • Systemic medications, surgical removal, or operations like chemotherapy or nonsteroidal anti-inflammatories might be used to treat desmoid tumors.
  • Osteomas might also need removal when they are bothersome or badly distorted.
  • Frequent lower gastrointestinal endoscopy is advised to check for polyps and screen for cancer. Because of the increased likelihood of polyps turning into cancer, more than 20 polyps could be a reason for a colectomy.
  • A gastroduodenoscopy every 1-2 years is also advised.
  • A yearly physical checkup, such as a thyroid palpation and skin check, is suggested.
  • Thyroid function tests might be performed starting in the late adolescent years.

Related Articles

ACUTE GLOMERULONEPHRITIS

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Acute glomerulonephritis (AGN) is a medical condition characterized by inflammation of [...]

BLUE BABY SYNDROME (CYANOTIC HEART DISEASE)

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Blue baby syndrome (cyanotic heart disease) is a group of congenital [...]

BASILAR ARTERY MIGRAINE

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Basilar artery migraine, also known as basilar migraine, is a subtype [...]