Download PDF
CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2013; 23(04): 333-336
DOI: 10.4103/0971-3026.125607
Neuroradiology

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

Shruti Thakur
Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital, Shimla, Himachal Pradesh, India
,
Vijay Thakur
Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital, Shimla, Himachal Pradesh, India
,
Ram Gopal Sood
Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital, Shimla, Himachal Pradesh, India
,
Charu Smita Thakur
Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital, Shimla, Himachal Pradesh, India
,
Shweta Khanna
Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital, Shimla, Himachal Pradesh, India
› Author Affiliations Financial support and sponsorship Nil.
› Further Information
  PDF Download Permissions and Reprints

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.

Keywords

Choristoma - encephalocraniocutaneous lipomatosis - exostosis - neurocutaneous - nevus psiloliparus


Publication History

Article published online:
30 July 2021

© 2013. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

Thieme Medical and Scientific Publishers Private Ltd.
A-12, Second Floor, Sector -2, NOIDA -201301, India

 

  • References

  • 1 Haberland C, Perou M. Encephalocraniocutaneous lipomatosis: A new example of ectomesodermal dysgenesis. Arch Neurol 1970;22:144-55.
  • 2 Fishman MA, Chang CS, Miller JE. Encephalocraniocutaneous lipomatosis. Pediatrics 1978;61:580-2.
  • 3 Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet 2009;46:721-9.
  • 4 Brassesco MS, Valera ET, Becker AP, Castro-Gamero AM, De Aboim Machado A, Santos AC, et al. Low-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis. J Neurooncol 2010;96:437-41.
  • 5 Hunter AG. Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes? Am J Med Genet A 2006;140:709-26.
  • 6 Gokhale NR, Mahajan PM, Belgaumkar VA, Pradhan SN, Uttarwar NS. Encephalocraniocutaneous lipomatosis: A rare neurocutaneous syndrome. Indian J Dematol Venereol Leprol 2007;73:40-2.
  • 7 Koishi GN, Yoshida M, Alonso N, Matushita H, Goldenberg D. Encephalocraniocutaneous Lipomatosis (Haberland′s Syndrome) - A Case Report of a Neurocutaneous Syndrome and a Review of the Literature. Clinics (Sao Paulo) 2008;63:406-8.
  • 8 Kim DH, Park SB, Lee Y, Im M, Seo YJ, Choi SH, et al. Encephalocraniocutaneous Lipomatosis without Neurologic Anomalies. Ann Dermatol 2012;24:476-8.
  • 9 Chan CC, Chen JS, Chu CY. Haberland Syndrome. Dermatol Sin 2005;23:41-5.
  • 10 Parazzini C, Triulzi F, Russo G, Mastrangelo M, Scotti G. Encephalocraniocutaneous Lipomatosis: Complete neuroradiologic evaluation and follow-up of two cases. AJNR Am J Neuroradiol 1999;20:173-6.
  • 11 MacLaren MJ, Kluijt I, Koole FD. Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis. Doc Ophthalmol 1995;90:87-98.
  • 12 Chittenden HB, Harman HE, Robinson F, Higgins EM. A case of encephalocraniocutaneous lipomatosis. Br J Ophthalmol 2002;86:934-5.