eMedicine Specialties > Dermatology > Internal Medicine
Cowden Disease (Multiple Hamartoma Syndrome): Treatment & Medication
Updated: Aug 11, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Treatment
Medical Care
Perform annual history and physical examinations on CD patients, as well as appropriate laboratory tests and imaging studies to check for internal malignancies.
Systemic treatments (ie, acitretin) may be used to control some of the cutaneous manifestations of the disease; however, the recurrence of lesions is typical after treatment is discontinued.
Surgical Care
- Surgical care of facial papules
- Chemical peels
- Laser resurfacing
- Surgery and/or shave excisions
Consultations
- Consult specialists as determined necessary by laboratory tests and physical examination.
- Ophthalmologist - For myopia, cataracts, and angioid streaks Endocrinologist - If thyroid studies are abnormal
- Gynecologist - For at least annual endometrial biopsy at age 35 years or at 5 years younger than the youngest age of a person in the family with a diagnosis of endometrial cancer
- Neurologist and neurosurgeon - If initial MRI shows cerebellar enlargement or other abnormalities or if patient has a new onset of focal CNS symptoms.
- GI or general surgeon - If barium swallow and/or enema shows significant lesions (A consultation may also be obtained if the diagnosis has not yet been established in a suspected case.)
- General surgeon - For mammogram abnormalities or consideration of prophylactic bilateral mastectomy, which some physicians recommend (Walton, et al) due to the 1 in 3 risk of women developing breast cancer
- Radiologist - Annual mammography at age 30 years or at 5 years younger than the youngest age of a person in the family with a diagnosis of breast cancer
Medication
Systemic therapy may temporarily control some of the cutaneous lesions of CD. Topical treatment usually is unsatisfactory.
Retinoids
These agents are partially effective in treating cutaneous lesions.
Acitretin (Soriatane)
Retinoic acid analog similar to etretinate and isotretinoin. Acitretin is the main metabolite of etretinate and has demonstrated clinical effects close to those seen with etretinate. Mechanism of action is suspected to be through its ability to cause increased differentiation of cells.
Adult
10-50 mg PO qd
Pediatric
Not recommended
Interferes with effectiveness of microdosed minipill progestin contraceptives; not known whether other progestational contraceptives (eg, implants, injectables) are adequate contraceptive methods during therapy; also has not been established if pharmacokinetic interaction occurs between acitretin and other birth control pills
St. John's wort interacts with hormonal contraceptives (reports of breakthrough bleeding and pregnancies); ethanol causes acitretin to be reesterified to etretinate, which has a much longer half-life; limit concomitant vitamin A (package insert says no vitamin A concomitantly); potentiated glucose-lowering effect of glibenclamide (a sulfonylurea) in 3 of 7 patient studied; do not administer concurrently with methotrexate (increases risk of hepatitis); protein binding of phenytoin may be reduced; do not administer concurrently with tetracyclines (increases risk of pseudotumor cerebri)
Absolute: Pregnancy, likely to become pregnant, intend to become pregnant within 3 y following cessation; females who cannot use reliable contraception while undergoing treatment and for at least 3 y after; noncompliance with contraception; nursing mothers; concurrent use of methotrexate (increased liver toxicity) or tetracyclines (pseudotumor cerebri); hypersensitivity
Relative: Leukopenia, moderate-to-severe cholesterol or triglyceride elevation, significant hepatic or renal dysfunction
Pregnancy
X - Contraindicated; benefit does not outweigh risk
Precautions
Monitor ALT, AST, cholesterol, triglycerides, BUN/creatinine, and urine monthly for first 3 mo and then q3mo thereafter; consider baseline ophthalmology examination and radiography; should be prescribed by physicians thoroughly familiar and experienced with use; alcohol consumption causes acitretin (half-life 2 d) to be metabolized to etretinate (half-life 120 d) and has been found in serum up to 4 y and 4 mo after discontinuation
More on Cowden Disease (Multiple Hamartoma Syndrome) |
| Overview: Cowden Disease (Multiple Hamartoma Syndrome) |
| Differential Diagnoses & Workup: Cowden Disease (Multiple Hamartoma Syndrome) |
 Treatment & Medication: Cowden Disease (Multiple Hamartoma Syndrome) |
| Follow-up: Cowden Disease (Multiple Hamartoma Syndrome) |
| Multimedia: Cowden Disease (Multiple Hamartoma Syndrome) |
| References |
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References
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Further Reading
Keywords
multiple hamartoma syndrome, Cowden syndrome, Cowden disease, PTEN (phosphatase and tensin homolog), hamartoma tumor syndrome
