Autosomal dominant disease allelic with Bannayan-Riley-Ruvalcaba syndrome (PTEN mutations).
Synopsis
craniofacial anomalies
- progressive macrocephaly
- "birdlike" facies
- hypoplastic mandible
- hypoplastic maxilla
- cataract
- angioid streaks
- myopia
- microstomia
- high-arched palate
- scrotal tongue
- oral papillomas
genital anomalies
- virginal hyperplasia
- fibrocystic breast disease
- gynecomastia in males
- breast fibroadenomas
- hydrocele
- varicocele
- vaginal cysts
- vulvar cysts
- ovarian cysts
- uterine leiomyomas
digestive anomalies
- hamartomatous polyps
- colon diverticula
scoliosis
kyphosis
cutaneous anomalies
- multiple facial papules
- acral keratoses
- palmoplantar keratoses
- multiple inverted follicular keratoses
- multiple skin tags
- facial trichilemmomas
- subcutaneous lipomas
lhermitte-Duclos disease
cerebellar gangliocytoma manifesting as seizure and tremor
thyroid aomalies
- goiter
- thyroid adenoma
- hyperthyroidism
- hypothyroidism
- thyroiditis
tumors predisposition
- breast cancer
- thyroid follicular carcinoma
- thyroid medullary carcinoma (17603316)
- endometrial adenocarcinoma
- ovarian carcinoma
- cervical carcinoma
- transitional cell carcinoma of the bladder
- colon adenocarcinoma
- meningioma
Etiology
germline mutations in
- PTEN gene (MIM.601728)
-
SDHB/SDHD of succinate dehydrogenase (18678321)
A Cowden-like syndrome has been found to be caused by mutation in the BMPR1A gene (MIM.601299)