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PTEN hamartoma tumor syndrome
Disease definition
A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome.
ORPHA:306498
Classification level: Group of disorders- Synonym(s):
- PHTS
- Prevalence: Unknown
- Inheritance: Autosomal dominant
- Age of onset: All ages
- ICD-10: -
- OMIM: -
- UMLS: C1959582
- MeSH: -
- GARD: 12800
- MedDRA: -
A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013)
Detailed information
Guidelines
- Clinical practice guidelines
- English (2020) - Eur J Hum Genet
Disease review articles
- Review article
- English (2014) - Orphanet J Rare Dis
- Clinical genetics review
- English (2021) - GeneReviews
- Diagnostic criteria
- English (2013) - J Natl Cancer Inst


Additional information