Ann Dermatol.  2012 Nov;24(4):476-478. 10.5021/ad.2012.24.4.476.

Encephalocraniocutaneous Lipomatosis without Neurologic Anomalies

Affiliations
  • 1Department of Dermatology, School of Medicine, Chungnam National University, Daejeon, Korea. jhoon@cnu.ac.kr
  • 2Department of Ophthalmology, School of Medicine, Chungnam National University, Daejeon, Korea.

Abstract

No abstract available.


MeSH Terms

Eye Diseases
Lipomatosis
Neurocutaneous Syndromes
Eye Diseases
Lipomatosis
Neurocutaneous Syndromes

Figure

  • Fig. 1 (a) Patchy hair loss in the frontotemporal area. (b) Erythematous papular lesions were seen on the forehead and periocular area. (c) Epibulbar choristoma on the left eyeball. (d) Eyelid coloboma.

  • Fig. 2 (A) Biopsy specimen from the scalp showed no significant dermal, perifollicular, or subcutaneous fibrosis. The thickness of the subcutaneous adipose tissue was increased with lobular proliferation of mature subcutaneous fatty tissue and fewer hair follicles (H&E ×40). (B) Magnetic resonance imaging reveals an oval image suggestive of a lipoma, about 2 cm sized, in left parietal paramedian area of the scalp (arrow). No abnormal signal intensity lesion in the brain parenchyme.


Cited by  1 articles

Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report
Eun mi Choi, Nani Jung, Ye Jee Shim, Hee Joung Choi, Joon Sik Kim, Heung Sik Kim, Kwang Soon Song, Hee Jung Lee, Sang Pyo Kim
Ann Pediatr Endocrinol Metab. 2016;21(4):240-244.    doi: 10.6065/apem.2016.21.4.240.


Reference

1. Haberland C, Perou M. Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol. 1970. 22:144–155.
2. Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet. 2009. 46:721–729.
Article
3. Gokhale NR, Mahajan PM, Belgaumkar VA, Pradhan SN, Uttarwar NS. Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. Indian J Dermatol Venereol Leprol. 2007. 73:40–42.
Article
4. Happle R, Horster S. Nevus psiloliparus: report of two nonsyndromic cases. Eur J Dermatol. 2004. 14:314–316.
5. Sofiatti A, Cirto AG, Arnone M, Romiti R, Santi C, Leite C, et al. Encephalocraniocutaneous lipomatosis: clinical spectrum of systemic involvement. Pediatr Dermatol. 2006. 23:27–30.
Article
Full Text Links
  • AD
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr