Allelic disease with Cowden disease (MIM.158350) caused by mutation in the PTEN gene (phosphatase and tensin homolog gene) (MIM.601728). Autosomal dominant inheritance.
Synopsis
macrosomy
macrocephaly
downslanting palpebral fissures
strabismus
amblyopia
prominent Schwalbe lines
prominent corneal nerves
pseudopapilledema
tongue polyps
high-arched palate
pectus excavatum
supernumerary nipples
ileal hamartomatous polyps
colonic hamartomatous polyps
intussusception
rectal bleeding
enlarged penis
enlarged testis
scoliosis
joint hyperextensibility
macrodactyly
tan macules on glans penis and penile shaft (pigmented macules of the glans penis)
acanthosis nigricans
reactive nodular lymphoid hyperplasia (16894538)
autism (16894538)
angiokeratoma
café au lait spots
arteriovenous malformation (AVM) (17032868)
- intracranial arteriovenous malformations (intracranial AVM)
- dural arteriovenous malformations (dural AVM) (17032868)
thick corpus callosum
Hashimoto thyroiditis
lipid storage myopathy
tumor predisposition
- intestinal hamartomatous polyp
- cutaneous lipoma (16952599)
- hemangioma
- meningioma
- thyroid follicular cell tumor
- mucocutaneous neuromas (16702501)
See also
PTEN hamartoma tumor syndrome (PHTS)
- Cowden disease
- Lhermitte-Duclos disease
- Proteus syndrome
overgrowth syndromes
juvenile polyposis