Encephalocraniocutaneous lipomatosis (Haberland syndrome): A case report and review of literature

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a rare sporadic neurocutaneous syndrome characterized by presence of central nervous system, ocular and cutaneous anomalies. The exact pathogenesis is still not known. We present the third case from the Indian subcontinent, who is a five year old girl with history of right sided seizures. Dermatological examination showed alopecia on right side of the scalp and ipsilateral limbal dermoid and nodular skin tags over the upper eyelid. The computerized tomography scan of the brain revealed porencephalic cyst, cerebral calcifications and atrophy of right brain. The histopathology of the skin lesions showed lipomatous hamartoma and features of non scarring alopecia. The constellation of these findings and in adherence to the diagnostic criteria of ECCL proposed in 2009, we consider this report as a definite case of ECCL.

Encephalocraniocutaneous Lipomatosis: Haberland Syndrome

“…Other abnormalities reported include enlarged lateral ventricle, porencephalic cyst, widened subarachnoid space, arachnoid cyst, corticopial calcifications, cortex with dysplasia, leptomeningeal angiomatosis, tapered corpus callosum, and a lack of normal insular opercularization [ 13 ]. Spinal lipomatous lesions as intradural extramedullary lesion have also been reported in ECCL [ 13 ]. Skeletal lesions, congenital heart defects, and urogenital anomalies have also been seen, although rare.…”

An Egyptian boy with Haberland syndrome: Case report with observations on the histopathology

“…The skin-colored eyelid tags in Haberland syndrome are reported to represent lipomas, fibromas, fibrolipomas, angiofibromas, and connective tissue nevi or hamartomatous tissue formed of cartilage, fat, and connective tissue. 4 Despite the absence of fat deposits in our cutaneous lesions, the conjunctival biopsy found lipomatous infiltrate. In addition, small collections of mast cells were interestingly found in the dermal inflammatory infiltrate in both scalp and eyelid lesions.…”

“…Being a constant feature in all reported cases, we suggest that alopecia (whether scarring or nonscarring) is a more reliable major criterion than fatty nevi in the diagnosis of Haberland syndrome. In addition, the variable existence of fat deposits (subcutaneous, conjunctival, or intracranial) in the reported cases 4 , 7 reinforces the need to revise the encephalocraniocutaneous lipomatosis nomenclature and to stick to the nonconfusing term of Haberland syndrome .…”

Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome

“…The treatment of ocular lesions includes the excision of the conjunctival tumors and lamellar or penetrating keratoplasties. 12 Large cutaneous lesions may require surgical treatment. ECCL patients may have a normal development or be severely retarded.…”