[Proteus syndrome with cerebral vascular malformations].
BACKGROUND
Proteus syndrome is a congenital hamartomatous dysplasia. This sporadic disorder involves the skeletal system, soft tissues, skin and vascular system. The most likely pathogenesis involves somatic mosaicism. Main manifestations included soft-tissue and epidermal nevi, partial gigantism, hemihypertrophy, exostoses, lipomas and vascular anomalies. The most common brain abnormalities are hemimegencephaly and migrational disorders. We present a case of Proteus syndrome with cerebral vascular anomalies which are not described previously.


METHODS
Our patient is a 61 year-old male who has hypertrophy of the four limbs, macrodactyly and hypertrophy of chest and abdomen asymmetric with mild facial asymmetry. Prominent and abundant of the four extremities and trunk, also asymmetric. Vascular tumors in the skin of trunk and left limb. Cerebral MRI shows venous angiomas and multiple cavernous malformations.


CONCLUSIONS
Clinical diagnostic criteria of Proteus syndrome are documented in our patient. He also has brain vascular malformations which are not described previously in the literature. We consider that both findings are not a product of causality due to the high prevalence of systemic vascular hamartomatous malformations in these patients. We hypothesize that a single mutation, probably involving genes in relation with apoptotic control will be responsible of Proteus syndrome and cerebral vascular anomalies in our patient, due to a defect of angiogenesis.
Badia
M C
MC
Hospital Clínico Universitario, Valencia. mcbadia@yahoo.es
Chamarro
R
R
Làinez
J M
JM
Piera
A
A
D001921:Brain / Q000473:pathology; D018376:Cardiovascular Abnormalities / Q000235:genetics / Q000473:pathology*; D002560:Cerebrovascular Circulation; D006801:Humans; D008297:Male; D008875:Middle Aged; D016715:Proteus Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology