Severe proteus syndrome in an 18-month-old boy.
We describe an 18-month-old Greek boy with macrocephaly, partial gigantism of hands and feet, hemihypertrophy, pigmented nevi, and other anomalies compatible with the Proteus syndrome. Cerebral involvement in a most severe form and at an early age concurs with the suggestion that encephalocraniocutaneous lipomatosis may represent a more circumscriptive manifestation of Proteus syndrome. Localized triggering of several growth factors is a challenging pathogenetic consideration of the syndrome.
D001847:Bone Diseases / Q000473:pathology; D001932:Brain Neoplasms / Q000473:pathology; D005128:Eye Diseases / Q000473:pathology; D006130:Growth Disorders / Q000473:pathology*; D006223:Hamartoma Syndrome, Multiple / Q000473:pathology*; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000473:pathology; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000473:pathology*; D010859:Pigmentation Disorders / Q000473:pathology