Solamen, syndrome
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(Segmental Overgrowth - lipomatosis - arteriovenous malformation - epidermal nevus)
Acronym for Segmental Overgrowth, Lipomatosis, Arteriovenous Malformation and Epidermal Nevus.
Very rare. Polymalformative syndrome due to a mutation of the PTEN gene (acronym for Phosphatase and TENsin homolog deleted on chromosome TEN) (10q 23), a tumor suppressor gene coding for a phosphatase that negatively regulates the PI3KT-AKT pathway.
It is characterized by:
- progressive and localized growth disorders: presence of segmental hypertrophies
- palmoplantar hypertrophy (padded aspect)
- vascular malformations
- abnormal distribution of adipose tissue
- pigmentary nevi that follow the Blashko lines
Some symptoms of Cowden Disease (macrocephaly) (see this term) may be present. Increased risk of developing a cancer.
Anesthetic implications:
difficult peripheral venous access
References :
- Longy M, Bubien V, Caux F, Lacombe D.
Syndromes avec prédisposition tumorale : syndrome de Gorlin et maladie de Cowden,
In Syndromes dysmorphiques, coordinateurs D Lacombe, N Philip, Progrès en Pédiatrie, Doin 2013, p 282-93.
Updated: October 2018