Encephalocraniocutaneous lipomatosis: A rare neurocutaneous syndrome

Abstract

Encephalocraniocutaneous lipomatosis is a congenital hamartomatous disorder with unique ocular, cutaneous and neurological features. A 13-year-old boy presented with history of mental retardation and delayed developmental milestones. Bulbar conjunctiva of left eye showed hypertrophy with a soft reddish limbal nodule encroaching on the cornea. Dermatological examination showed multiple patches of alopecia, soft papules in the left perioral and periorbital areas, soft masses over the right axilla, trunk and in the lumbosacral region suggestive of lipomas. The CT scan of the brain revealed well-defined, hypodense lesions in both the cerebellar hemispheres suggestive of lipomas. The constellation of these findings led us to a diagnosis of encephalocraniocutaneous lipomatosis.

Encephalocraniocutaneous lipomatosis

“…In addition, 23 further patients are reviewed, all of whom meet Hunter’s criteria except one patient, who has been included because of his typical skin lesions 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53…”

Encephalocraniocutaneous lipomatosis (Haberland syndrome): A rare case report

“…The widely accepted hypothesis for this congenital anomaly is somatic mosaicism caused by lethal autosomal mutations, which survives only in a mosaic state. [5] Several diseases such as Proteus syndrome, Delleman syndrome, and neurocutaneous melanosis are supposed to originate from similar cutaneous mosaicism of lethal mutations as in ECCL. All patients with ECCL should undergo detailed neuroimaging studies since the neurological manifestations can vary from being totally normal to severe vascular malformations.…”

Haberland Syndrome

“…Usually, seizures develop, beginning in infancy, and affected patients have variable degrees of psychomotor delay and motor impairment The differential diagnosis includes [9,11,12] -Sebaceous nevus syndrome, -Oculocerebrocutaneous syndrome (OCC), and -Proteus syndrome.…”