Fishman syndrome. Encephalocraniocutaneous lipomatosis (ECCL)
Incidence
All cases thus far reported have been sporadic.
Clinical Characteristics
A syndrome of mental deficiency, seizures, and unilateral cutaneous and ocular lesions with ipsilateral cerebral abnormalities. Fishman syndrome is considered as a possible localized form of the Proteus syndrome. It seems that Proteus syndrome and ECCL are distinct entities even though some clinical manifestations are shared and a few patients have manifestations of both disorders. All cases thus far reported have been sporadic. The hallmark of encephalocraniocutaneous lipomatosis is the presence of a large, soft, unilateral, slightly protuberant mass in the craniofacial region. The skin above the mass is devoid of hair. A fleshy pterygium-like lesion is usually present on the sclera. Neonates with encephalocraniocutaneous lipomatosis may present with seizures and hypotonia. Hydrocephalus may develop later. Magnetic resonance imaging usually shows cerebral atrophy ipsilateral to the cutaneous lesions, porencephalic cysts, intracranial lipomas, and vascular malformations. Spinal cord involvement (lipomas) may occur in encephalocraniocutaneous lipomatosis. Encephalocraniocutaneous lipomatosis is a sporadic disorder.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
It is a clinical diagnosis.