Encephalocraniocutaneous lipomatosis: Case report and review of the literature

Cornea

Volumn 22, Issue 4, 2003, Pages 389-390

  Almer, Zina ^b   Vishnevskia Dai, Victoria ^b   Zadok, David ^a  

^a ASSAF HAROFEH MEDICAL CENTER   (Israel)

^b NONE

Author keywords

Bilateral aniridia; Bilateral epibulbar lipodermoids; Coloboma; Encephalocraniocutaneous lipomatosis

Indexed keywords

ANIRIDIA; ARTICLE; CASE REPORT; CHORISTOMA; CLINICAL FEATURE; DISEASE COURSE; ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; HAMARTOMA; HUMAN; LIPOMATOSIS; MALE; NEWBORN; PRIORITY JOURNAL; SYNDROME;

BRAIN DISEASES; CHORISTOMA; DEVELOPMENTAL DISABILITIES; EYE DISEASES; HUMANS; INFANT, NEWBORN; IRIS; LIPOMATOSIS; MALE; NEUROCUTANEOUS SYNDROMES; SKIN DISEASES; SPINAL CORD DISEASES;

EID: 0037648634     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/00003226-200305000-00023     Document Type: Article

References (12)

1. Unal O, Cirak B, Bekerecioglu M, et al. Congenital infiltrating lipomatosis of the face with cerebral anomalies. Eur Radiol 2000;10:1610-3.
2. Happle R, Steijlen PM. Encephalocraniocutaneous lipomatosis. A nonhereditary mosaic phenotype. Hautarzt 1993;44:19-22.
3. Rizzo R, Pavone L, Micali G, et al. Encephalocraniocutaneous lipomatosis, Proteus syndrome and somatic mosaicism. Am J Med Genet 1993;47:653-5.
4. Kodsi SR, Bloom KE, Egbert JE, et al. Ocular and systemic manifestations of encephalocraniocutaneous lipomatosis. Am J Ophthalmol 1994;118:77-82.
5. Nowaczyk MJ, Mernagh JR, Bourgeois JM, et al. Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. Am J Med Genet 2000;91:261-6.
6. Amor DJ, Kornberg AJ, Smith LJ. Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome. J Pediatr Child Health 2000;36:603-5.
7. Deda G, Caksen H, Yavuzer G, et al. Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report. Brain Dev 2001;23:355-8.
8. Nosti-Martinez D, del Castillo V, Duran-Mckinster C, et al. Encephalocraniocutaneous lipomatosis: uncommon neurocutaneous syndrome. J Am Acad Dermatol 1995;32:387-9.
9. Fryer AE. Scalp lipomas and cerebral malformations - report of a case and review of literature. Clin Dysmorphol 1992;1:99-102.
10. Haberland C, Perou M. Encephalocraniocutaneous lipomatosis: a new example of ectodermal dysgenesis. Arch Neurol 1970;22:144.
11. Al-Mefty O, Fox JL, Sakati N, et al. The multiple manifestations of the encephalocraniocutaneous lipomatosis syndrome. Childs Nerv Syst 1987;3:132.
12. Mansour AM, Barber JC, Reinecke RD, et al. Ocular choristomas. Surv Ophthalmol 1989;33:339-57.