Cowden disease


Cowden disease

Description:

Hypertrichosis and gingival fibromatosis from infancy, accompanied by postpubertal fibroadenomatous breast enlargement. Papules of the face are characteristic of multiple trichilemmomas.

Alternative Names: Multiple hamartoma syndrome or PTEN Hamartomatous Tumor syndrome.

Abbreviation: CD.

ICD-9: 759.6.

Cowden disease is a familial syndrome characterized by tumors of the skin, oral mucosa, breast, thyroid, and intestinal epithelium. The underlying problem in Cowden Syndrome is a mutated PTEN gene. The PTEN protein product controls cell growth by promoting normal cell death. A mutation on the PTEN gene leads to loss of the protein's function and results in overproliferation of cells that form hamartomatous growths.

Cowden disease

It is estimated that CD affects 1 in 200,000 individuals but is underdiagnosed. Both males and females are affected by CD. Onset is usually by the late twenties.

Individuals with Cowden syndrome are at an elevated risk for developing cancer of the breast, thyroid, and endometrium, according to Genetics Home Reference. The hamartomas characteristic of the condition occurs most frequently on the skin and mucous membranes such as the lining of the nose and mouth. However, they sometimes occur in the intestines.

Symptoms:

Many individuals have an enlarged head, a condition known as macrocephaly. Some suffer from a rare benign brain tumor known as Lhermitte-Duclos disease. Cowden's signs are learning disabilities, autism, and/or mental retardation. The bumps or lesions are also found in many patients.

The most common extracutaneous feature, which occurs in two thirds of patients, is thyroid diseases. These include thyroid dysfunction, thyroiditis, or thyroid cancer. Thyroid cancer occurs in 7 percent of patients and represents the second most common malignant condition found in Cowden's syndrome. Fibrocystic breast disease and fibroadenomas arise in approximately 75 percent of female patients. Carcinoma of the breast is the most common malignant condition to occur in patients with Cowden's syndrome and is found in 22 percent of women. Hamartomatous polyps of the intestinal tract also have been reported in 40-60 percent of patients.

Individuals with CD may have an increased chance to develop the following benign tumors, which are also common in the general population:

    A goiter (enlarged thyroid) or a benign tumor in the thyroid.

  • Polyps in the stomach, small intestine or colon.

  • Uterine fibroids (benign growths in the uterus).

  • Fibrocystic breast changes (a feeling of lumps and or tenderness in the breasts).

  • Lipomas (benign fatty tumors) and fibromas (benign tumors of connective tissue).

Diagnosis:

The first two steps for determining whether a patient has Cowden syndrome are conducting a thorough physical exam and taking a detailed family history. Dermatologists and genetic counselors should be involved. Diagnosis of Cowden disease is based on the following criteria. They are divided into three categories.

1. The pathognomonic criteria.

2. The major criteria.

3. The minor criteria.

Patients with Cowden disease need to undergo medical and physical examinations and appropriate laboratory and radiographic tests on a yearly basis to check for internal malignancies. Genetic counseling of relatives is very important especially females who are at most risk for malignant complications.

Treatment:

Oral retinoids, e.g. acitretin that may temporarily control some of the cutaneous lesions. Lesions often reappear when treatment is stopped.

There is no cure for CD, because cancer is the major health risk associated with CD, it is important to follow cancer prevention and early detection screening guidelines. These tests help detect cancer at the earliest, most treatable stage. Screening for people with CS usually includes, breast cancer screening for women and thyroid cancer screening for both men and woman.

Surgical care of facial papules using chemical peels, laser resurfacing, surgery and/or shave excisions. At least 40% of patients with Cowden disease have at least one cancer. If cancers are detected early their cure rate is high with appropriate treatment. Patients need to be followed-up regularly by a multidisciplinary team of doctors.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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