Skin-colored papular or polypoid cutaneous nodules may be observed on the face and eyelid in a unilateral distribution on the same side as the scalp lesions. These may represent small angiolipomas, fibrolipomas, connective tissue nevi, or mixed hamartomas of cartilage, fat, and connective tissue. Ocular involvements appear to be a uniform feature of Haberland syndrome. The most common ocular movements include epibulbar choristomas, small papules around the eyelids, and desmoid tumors of the scleral limb. Persistent hyaloid vessels, disclocation of the lens capsule, clouding of the cornea, iris dysplasia, colobomas, microphthalmia, ocular calcifications, and optic nerve pallor also have been reported.
Neurological manifestations occur to variable degrees.
Mental status of the reported cases varies from totally normal to severe mental retardation. Other abnormalities found on physical examination of patients with ECCL include vertebral abnormalities, or leg, arm, or chest asymmetry. All reported cases of ECCL were sporadic. Laboratory test results usually are within the reference range. Enlargement of the lateral ventricle, the intracranial cysts, and atrophy of the cerebral hemisphere ipsilateral to the cutaneous lipomatous hamartomas were the most common findings on CT scan or MRI of the head.