(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