Autosomal dominant disease allelic with Bannayan-Riley-Ruvalcaba syndrome (PTEN mutations).

Synopsis

 carniofacial anomalies

• progressive macrocephaly
• "birdlike" facies
• hypoplastic mandible
• hypoplastic maxilla
• cataract
• angioid streaks
• myopia
• microstomia
• high-arched palate
• scrotal tongue
• oral papillomas

 pectus excavatum

 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
• ovarian carcinoma
• cervical carcinoma
• uterine adenocarcinoma
• thyroid cancer (follicular cell)
• transitional cell carcinoma of the bladder
• colon adenocarcinoma
• meningioma

Etiology

 germline mutations in the PTEN gene (MIM.601728)
 A Cowden-like syndrome has been found to be caused by mutation in the BMPR1A gene (MIM.601299)