By Gary M. White, MD
The overgrowth syndromes are a rare, heterogeneous group of disorders characterized by excessive tissue and PTEN mutations. Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome are key diseases in this category and many consider them the same disease.
Mutations in the PI3K/Akt/mTOR signaling pathway or in the upstream negative regulator PTEN cause various overgrowth disorders that may involve the skin.
- Vascular anomalies
- Lipomas or fatty tissue infiltration
- Cerebriform connective tissue nevi
- Facial papules (Cowden syndrome)
- Epidermal nevi, hyperpigmentation
PTEN hamartoma tumor syndrome
- Term used to describe any patient with germline PTEN mutation regardless of phenotype
- Lack of PTEN leads to enhanced cell migration, prolonged cell survival secondary to upregulation of the AKT & MAPK pathway
- Overgrowth + Malignancy
- One group [J Med Genet. 2007 Sep; 44(9): 579–585] found macrocephaly to be the most consistent finding (100%), with mucocutaneous features second (90%), and both are helpful when deciding which people to test. Children, particularly girls with motor delay or learning difficulties with macrocephaly, should be considered for testing for PTEN mutation.
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