PEDBASE.org - The Pediatric Database - Detailed information of COWDEN'S SYNDROME

COWDEN'S SYNDROME

DEFINITION:

A disorder involving the intestines characterized by masses of hamartomatous polyps, mucocutaneous pigmentation, and extra-intestinal manifestations.

EPIDEMIOLOGY:

incidence: rare
age of onset:
- 1st to 3rd decades
risk factors:
- familial - autosomal dominant
  - chrom.#: ?
  - gene: ?

PATHOGENESIS:

1. Background

there are two disorders associated with hamartomatous polyps in childhood:
1. Peutz-Jeghers Syndrome

2. Cowden's Syndrome
see file on "Peutz-Jeghers Syndrome" for notes on hamartomatous polyps and malignancy potential

CLINICAL FEATURES:

1. Gastrointestinal Manifestations

1. Painless Rectal Bleeding

+/- bloody diarrhea

2. Complications

malignancy potential: carcinoma of the colon

2. Mucocutaneous Pigmentation

acral keratosis
papillomas or fibromas of oral mucosa, tongue, and gingiva (cobblestone appearance)
tricholemoma of the face
others: angiomas, lipomas, vitiligo of skin

3. Extraintestinal Manifestations

1. Thyroid

thyroiditis
goiter
carcinoma (later in life)

2. Breast

cystic disease
gynecomastia
virginal hypertrophy
carcinoma (occurs in up to 50% of women but not reported in males)

INVESTIGATIONS:

1. Colonoscopy/Endoscopy

hamartomas - multiple, sessile, small
entire GI tract affected
biopsy:
- hamartomas, lipomas, juvenile polyps, leiomyomas, ganglio-neuromatosis

2. Imaging Studies

barium enema may miss small hamartomas

MANAGEMENT:

1. Supportive

regular follow-up for various manifestations

2. Surgery

prophylactic simple mastectomy in women with Cowden's who have active cystic disease of the breasts

Pediatric Database - COWDEN'S SYNDROME

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