Indian Journal of Radiology Indian Journal of Radiology  

   Login   | Users online: 1291

Home Bookmark this page Print this page Email this page Small font sizeDefault font size Increase font size     


NEURORADIOLOGY Table of Contents   
Year : 2013  |  Volume : 23  |  Issue : 4  |  Page : 333-336
Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature

Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital, Shimla, Himachal Pradesh, India

Correspondence Address:
Shruti Thakur
Department of Diagnostic Radiology, Indira Gandhi Medical College and Hospital, Shimla 171 001, Himachal Pradesh
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-3026.125607

Rights and Permissions

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.

Print this article     Email this article

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
  Citation Manager
 Access Statistics
  Reader Comments
  Email Alert *
  Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded203    
    Comments [Add]    
    Cited by others 1    

Recommend this journal