Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature

Abstract

Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare syndrome with unknown etiology. The syndrome is characterized by a triad of unique cutaneous, ocular, and central nervous system (CNS) manifestations. The cutaneous hallmark, nevus psiloliparus (NP), along with overlying alopecia is a constant feature. Choristoma of the eyelid is the most common ocular manifestation, while intracranial lipoma is the predominant CNS finding. Genetic counseling is required to emphasize that the disorder, although congenital, is not inheritable. We present a 21-year-old female with cutaneous, ocular, and CNS features satisfying the diagnostic criteria for ECCL. To our knowledge, this is the first case of ECCL having a large temporal exostosis. The objective of this article is to better understand the phenotypic spectrum of this syndrome whose molecular basis is still unknown.

Encephalocraniocutaneous Lipomatosis: Haberland Syndrome

“…Etiology of ECCL remains unknown and is not associated with gender, race, or geography. A postzygotic gene mutation is suspected in genetic causes with an autosomal mutation in mosaic form [ 7 ]. Dysgenesia of the anterior neural tube and cephalic neural crest is thought to occur in embryo-pathogenesis.…”

“…The differential diagnosis includes Proteus syndrome, sebaceous nevus syndrome, and oculocerebrocutaneous (OCC) syndrome [ 7 , 13 ]. Sebaceous nevus syndrome is also associated with seizures and mental retardation, but the cutaneous lesions are mainly on the midline of the face.…”

Encephalocraniocutaneous lipomatosis (Haberland syndrome): A rare case report

“…Clinically main differential diagnosis includes proteus syndrome, neurofibromatosis, Sturge–Weber syndrome, epidermal nevus syndrome, Goldenhar syndrome. [7] The presence of certain distinct cutaneous and CNS features associated with alopecia, distinguish all the above-mentioned disorders from ECCL. Treatments for ECCL are mainly symptomatic.…”

Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome

“…Encephalocraniocutaneous lipomatosis (ECCL), also known as Fishman syndrome, is a rare congenital neurocutaneous disease that commonly involves ectomesodermal tissues, such as eye, skin, and central nervous system. 1 , 2 Nevus psiloliparus (NP), a rare skin anomaly characterized by alopecia and an excessive amount of fat tissue is the hallmark of ECCL. 2 Eyelid choristoma is the predominant ocular feature, while intracranial lipoma is the major central nervous syndrome (CNS) manifestation.…”