Open AccessEncephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature
Author(s) -
Shruti Thakur,
Vijay Thakur,
Rajeev Sood,
Charu Smita Thakur,
S. N. Khanna
Publication year - 2013
Publication title -
indian journal of radiology and imaging - new series/indian journal of radiology and imaging/indian journal of radiology and imaging
Language(s) - English
Resource type - Journals
eISSN - 0971-3026
pISSN - 0970-2016
DOI - 10.4103/0971-3026.125607
Subject(s) - medicine , lipomatosis , exostosis , etiology , dermatology , eyelid , pathology , choristoma , anatomy , surgery
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.